فهرست مطالب maryam sedghi

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are inherited X-linked disorders resulting from alterations in the dystrophin gene. Genotype-phenotype matching studies have revealed a link between disease severity, the amount of muscle dystrophin, and the extent of mutation/deletion on the dystrophin gene. This study aimed to assess the relationship between genetic alterations in the dystrophin gene and the clinical status of patients with dystrophinopathies among the Iranian population. This cross-sectional study examined 54 patients with muscle weakness caused by abnormalities in the dystrophin gene at a hospital affiliated to Isfahan University of Medical Sciences, Isfahan, Iran, in 2021. The participants’ demographic information, including age, family history of muscle dystrophies, and family history of other medical diseases as well as the type of muscular dystrophy were recorded. Furthermore, the number and region of deleted exons based on dystrophy types were also evaluated using multiplex ligation-dependent probe amplification (MLPA). The patients’ gaits were also assessed as using a wheelchair, the presence of waddling gaits, or toe gaits. The patients’ clinical status and the coexistence of pulmonary, bulbar, and mental conditions were also examined and compared between the two groups of dystrophinopathies. In this study, 54 patients with dystrophinopathy with the mean age of 16.63 ± 12.10 years were evaluated, of whom 22 (40.7%) and 30 (55.6%) patients were classified as BMD and DMD, respectively. The most affected regions with deleted exons were exons 45-47 (n = 5) and 45-48 (n = 4) in patients with BMD, while exons 45, 48-52, 51-55, and 53 (2 cases per exon) were the most common affected exons in patients with DMD. Further analyses revealed that deletions in exons 45-47 and 51-55 were significantly associated with older and younger ages at the onset of becoming wheelchair-bound in patients with dystrophy, respectively. The hotspot range in both BMD and DMD was within exons 45-55 (n = 15 for each group); 63% of the patients had alterations on the dystrophin gene within this range [30 patients (68.18%) in the BMD group, 15 patients (53.57%) in the DMD group]. Exon deletion was the most common genetic alteration in patients with dystrophinopathies. No significant difference was observed between DMD and BMD regarding the number of deleted exons. Deletions in exons 45-47 and 51-55 were linked to later and earlier onset of becoming wheelchair-bound, respectively.

Epilepsy, defined as the tendency to have recurrent unprovoked seizures, is the most common and chronic neurological disorder worldwide. About 20% to 40% of children with epilepsy suffer from refractory seizures, causing several neurological, cognitive, and psychosocial impairments. Identifying the factors contributing to pediatric refractory seizures can help neurologists in effective prevention, diagnosis, and treatment of their patients.

In this cross-sectional study 2 to 16 years old children with refractory seizures (drug-resistant epilepsy), were assessed regarding their demographic and seizure-associated characteristics.

Children with refractory seizures had a significantly higher rate of neonatal asphyxia, hospitalization after birth, neonatal seizures, seizure in the first year of life, history of infantile spasm and symptomatic epilepsy. Also, polymorphic seizures, brain MRI abnormalities were significantly more frequent among them. Several different mechanisms have been suggested for explaining intractability in epileptic patients. None of the mechanisms can explain all patients. The most common underlying etiologies for seizures in the intractable group were hypoxic-ischemic damage, cerebral dysgenesis, genetic disorders.

Seizure intractability is the result of a great deleterious change in the structure of the brain. Early identification of the risk factors and prediction of patients likely to have pharmaco-resistant epilepsy will allow more aggressive treatment and earlier specialized intervention.

The growth and development of urbanization and irregular migration have caused many problems in cities. These issues arose as a result of an imbalanced demand and supply in traffic facilities, resulting in congestion and fuel waste. This problem has explicitly emerged in Iran and is more explicit in Tehran, as its developing capital. One of the main traffic facilities that shows the demand and supply functions is the petrol station. This unbalance is more visible, particularly in Tehran's north, due to high residential density and high land prices. It means it is not possible or cost-effective to construct new stations. Thus, most of the time, long petrol queues waste energy and negatively affect the people in the line. Increasing prices is one of the proper solutions for managing demand to solve this problem, which has been suggested by traffic engineers in recent years. The current study collects data from users of petrol stations in the north of Tehran randomly via questionnaires using the stated preference method to show the sensitivity of price for them. This data is analyzed using SPSS, and the influence of gender, age, residence, education, occupation, car's value, users' threshold of tolerance, and time is investigated. Results show that in all these indices, time has great importance and it makes exceptions. When time is important to the user, he or she is willing to pay more. This is true regardless of the user's wealth, education, job, or place of residence.

Infantile neuroaxonal dystrophy (INAD) is a rare recessive neurodegenerative disorder manifested by symptoms, including hypotonia, extrapyramidal signs, spastic tetraplegia, vision problems, cerebellar ataxia, cognitive complications, and dementia, before the age of three. Various reports evaluated the relationship with the incidence of INAD and different mutations in the PLA2G6 gene. We describe cases of two children with INAD whose diagnoses were challenging due to misleading findings and had a mutation in the position C.2370 T>G (p. Y790X) in the PLA2G6 gene based on NM_001349864 which has been reported previously.

Near fault earthquakes have different characteristics comparing to far field recorded events, they often contain strong coherent dynamic long period pulses and permanent ground displacements.In the recent years, the effects of near field and far field earthquakes have been studied separately in various building codes.Building codes have been revised and updated depending on the improvements in the representation of ground motions, soils and structures. These revisions have been more frequently seen in recent years. One of the key changes in earthquake codes has been performed on the design spectra.Design spectra are used in seismic analysis methods such as equivalent static lateral force analysis, dynamic spectral analysis and time history dynamic analysisVarious seismological and geophysical parameters affect the shape of design spectra. Ambraseys et al. (1996) and Bommer and Acevedo (2004) presented and discussed the effects of earthquake magnitude, source-to-site distance, site classification, and style-of-faulting on the strong-motion accelerograms and consequently design spectra. Present study shows the results of 214 accelerograms, obtained from shallow crustal earthquakes with epicenral distance less than 80 km from causative fault, to determine the design spectrum in Iran. A comparison is the performed with the design spectrum of Iranian building code (Standard No.2800). So far, due to the lack of information and registered accelerogras in Iran, as well as the unclear ground conditions at the place of record registration; no effective action has been taken to determine the design spectrum in Iran. The site conditions have been classified into different categories in earthquake codes. These categories are named ground types, soil profile types, local site classes or subsoil classes.In Iranian Seismic Building Code, four types of soils I, II, III, IV have been determined, Site Class I: Rock, or hard Rock , or thin alluvium on bed rock with Vs30 more than 750 m / s, Site Class II, Very dense soil or soft rock with high thickness on rock bed with Vs30 between 375 to 750 m / s, Site Class III Stiff soi or soils with medium density or hardness with Vs30 of 175 to 375 meters per second and Site Class IV ; soft soils with a Vs30 of less than 175 meters per secondThe accelerograms, obtained from major earthquakes in Iran, United States and Europe have been collected, then processed.. After calculating the response spectra, the design spectra was plotted from the average response spectra values for all soil types, (I, II, III, IV) presented in the Standard No.2800. To compare the results of this study with Spectra presented in Iranian Seismic Building Code, records obtained from event having magnitudes greater than 5.5 and recorded in the epicentral distances less than 80 km were selected and 5% damping was used for calculations. The results show that design spectrum for soil classes I, II, and III , were consistent with standard No.2800 for the spectral values of Periods 0.0 to 0.39 seconds, while in the periods longer than 0.39 seconds, the design spectrum of the Standard No.2800 is more conservative. than present design spectra . Meanwhile, the spectral ordinates for design spectra of vertical component for soil class IV , were representative for higher values for present spectra , comparing to that presented in Standard No.2800. This mighe be related to epistemic uncertainty imposed by still few available records for soft soil site (class IV).

This study was conducted in order to compare the effectiveness of couple therapy based on choice theory and acceptance and commitment therapy (ACT) in marital interactions of the couples. This study was a semi-experimental study with pretest and posttest design and control group. The study population included married couples in Ardabil in 2017. Therefore, through convenience sampling method, 45 couples who had admitted by the counseling and psychotherapy centers in Ardabil were selected and divided into three groups of Experimental Group 1 (15 couples), Experimental Group 2 (15 couples) and Control Group (15 couples). They were assessed by Dyadic Adjustment Scale (DAS) of Graham B. Spanier. Data were analyzed by MANOVA. Results showed that couple therapy based on choice theory and acceptance and commitment therapy (ACT) were effective in the improvement of marital interactions. So that, compared to couple therapy based on choice theory, acceptance and commitment therapy (ACT) was more effective (p < 0.05).

Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations.

This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC.

In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pediatric neurology, Isfahan University of Medical Sciences, Isfahan, Iran, were investigated. Quantitative data were shown as Mean±SD, and qualitative data as frequency or percentage. In addition, the f Chi-square test was used to compare some data in SPSS version 22.

In this study, 62 patients, including 29 boys and 33 girls with a Mean±SD age of 4.99±5.07 years, were included. Among the patients examined, 54.4% were born of consanguineous marriage, 82% had developmental delays, 80.4% had mental retardation, 89.1% had a speech delay, 23.7% had nutritional problems, 42.4% had facial dysmorphic features, and 27.6% had abnormalities of muscle tone. Among the associated problems stated by the patients, 15.5% of them had heart diseases, 22.4% visual disorders, 5.2% hearing deficit, 25.8% behavioral problems, 50% seizures, and 53.3% had abnormal electroencephalogram. Interestingly, 12.9% of the patients had normal or near-normal development.

The prevalence of developmental delays, speech and language disorders, mental retardation, facial deformities, seizures, and abnormal muscle tone were common in the patients with ACC.

Understanding strong ground motions in the near-fault areas is important for seismic risk assessment in densely populated areas. In the past, lack of information on strong ground motion for large and moderate earthquakes led to the use of mainly far field large and moderate earthquake records in equations for calculation of the strong ground motion parameters. In this article, we collected and generated a seismic catalogue with a data set of corrected and processed 217 triaxial near source strong ground motion and accelerometric data recorded from 1976 to 2018 obtained from 30 shallow crustal earthquakes with a focal depth below 30 km from different regions including 24 in Iran, 5 in California and one in Italy (because of the lack of Iranian near-field accelerograms) in different stations. These data were recorded (129 Iranian records, 88 from California and Italy) with a source-to-site distance less than 80 km and earthquakes between Mw = 5 and 7.5. Receiver function method was used for site classification for these records. The percentage of processed data in this study was 18%, 43%, 33% and 6% for the different site classes of 1, 2, 3, and 4. In the final catalog, records in which their PGA≥ 100 cm /s2, were reported. This near source ground motion database also contains information about ground motion, source parameters and is fundamental for dynamic research in earthquake engineering for the estimation of strong ground motion parameters (PGA, PGV, PGD and frequency content of response spectra) of moderate-to-large earthquakes.

On April 5, 2017, an earthquake with moment magnitude of 6.1 occurred Sefid-Sang area about 80 km southeast of Mashhad city in Khorasan-e-Razavi province. In this study, to estimate source parameters and rupture characteristics of the earthquake, the Empirical Green Function (EGF) method and the stochastic finite-fault (SFF) technique were used for strong ground motion simulation. Then the observed records and the simulated graphs by these two methods, were compared. To simulate the earthquake by EGF method, an aftershock with moment magnitude of 4.8 was used as the empirical Green function. The size of the main fault caused by the event was about 10 km in length and 8 km in width. The duration of the rupture in this event was about 18 seconds. The estimated fault plane solution shows reverse mechanism with strike-slip component. Strike, dip and rake of causative fault of the earthquake were determined as 311, 55 and 117 degrees. In addition, the stress drop in this event was calculated to be about 8 bars.

Marital commitment and its various dimensions are among the most important factors in the sustainability of a shared life. Much research has been done using paired therapeutic approaches of theory of choice, acceptance, and commitment, and coupled therapies. But which of these could be more effective?

The purpose of this study was to investigate the effectiveness of couple therapy methods of selection, acceptance and commitment theory and coupled couples therapy in promoting couples' commitment.

The present study was a pilot study with pre-test and post-test design with one month control and follow-up group. The study population was all couples in Ardabil city in 2018. The sampling method was available, 60 couples whose scores on the Commitment Questionnaire were lower than the average were selected and randomly divided into four groups. The Adams & Jones (1997) Cognitive Commitment Inventory was used to evaluate and compare Glasser's group therapy (Abbasi Mollid et al, 2015) in 8 sessions of 120 minutes, one session per week on the 15 couples, acceptance and commitment based therapy (Hayes, 2006) A 2-hour session was conducted in 8 sessions per week on 15 couples and paired therapy (Feldman's, 1979) was conducted in 8 sessions in 1.5-hour sessions on 15 couples and covariance analysis was used to analyze the hypotheses.

The results of covariance analysis showed a significant difference between the experimental and control groups. This difference showed that there was a significant difference in the experimental groups in post-test (P<0/05) and follow-up (P<0/01) compared to the pre-test mean marital commitment scores and also the effectiveness of choice therapy education in couple therapy. Compared with the other two groups.

From the results obtained in this study it can be concluded that couples therapy methods of choice theory, acceptance and commitment and couples therapy therapy have been effective in promoting couples' commitment.

Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in MECP2 gene, which is a nuclear protein that selectively binds CpG dinucleotides in the genome. To provide further insights into the distribution of mutations in MECP2 gene, we investigated 24 females with clinical characters of Rett syndrome referred to Alzahra University Hospital in Isfahan, Iran during 2015-2017. We sequenced the entire MECP2 coding region and splice sites for detection of point mutations in this gene. Freely available programs including JALVIEW, SIFT, and PolyPhen were used to find out the damaging effects of unknown mutations. Direct sequencing revealed MECP2 mutations in 13 of the 24 patients. We identified in 13 patients, 10 different mutations in MECP2 gene. Three of these mutations have not been reported elsewhere and are most likely pathogenic. Defects in MECP2 gene play an important role in pathogenesis of Rett syndrome. Mutations in MECP2 gene can be found in the majority of Iranian RTT patients. We failed to identify mutations in MECP2 gene in 46% of our patients. For these patients, further molecular analysis might be necessary.

Let £ be a 0-distributive lattice with the least element 0, the greatest element 1, and Z(£) its set of zero-divisors. In this paper, we introduce the total graph of £, denoted by T(G(£)). It is the graph with all elements of £ as vertices, and for distinct x,y∈£, the vertices x and y are adjacent if and only if x∨y∈Z(£). The basic properties of the graph T(G(£)) and its subgraphs are studied. We investigate the properties of the total graph of 0-distributive lattices as diameter, girth, clique number, radius, and the  independence number.

Regarding to the high prevalence of Down syndrome (1 per 700 births) different prenatal screening methods have been developed to identify high risk pregnant women. If the screening results were positive, prenatal genetic tests are recommended. This study was performed with aim to evaluate screening tests and comparison with fetal karyotype results.
In this cross-sectional, descriptive and analytical study, the results of screening tests and genetic tests of 1009 pregnant women who underwent aneuploidy screening test in the years2015-2016, was examined. The information includes demographic data, familial history of previous child affected with Down syndrome, consanguineous marriage was obtained and then the results of screening and genetic test were recorded in a designed questionnaire. Data were analyzed using SPSS software (version 19), P value less than 0.05 was considered significant.
Based on the results of genetic tests, 59 cases (6%) of the studied fetuses had aneuploidy that 41 cases had Down syndrome. There was a significant relationship between screening tests and aneuploidy (P0.05). Also, significant relationship was found between NT>3mm and aneuploidy (P Fetal screening tests can help in finding pregnant women at risk for a child with chromosomal abnormalities. Further studies are recommended to determine the sensitivity of screening tests.

Treatment of intractable seizures other than spasms is difficult and controversial.
There are few studies on efficacy of adrenocorticotropic hormone (ACTH) in treatment of patients with intractable seizure.
Twenty-five patients with intractable seizure other than spasm including 14 boys and 11 girls with median age of 58 months referred to university clinics of Pediatric Neurology in Isfahan, Iran, during 2014-2015 were prospectively investigated. ACTH was administrated according to our protocol. All cases were followed regularly and assessed for response to treatment and probable side effects, 3 wk after beginning of ACTH therapy and three months after the ACTH therapy. EEG finding were recorded before and three months after the end of ACTH therapy. Statistical analysis using Freidman test and Wilcoxon signed – rank test were performed in order to compare seizure frequency and EEG changes, respectively.
Mean A significant reduction (>80%) in seizure frequency in 11 cases (44%) and moderate reduction (50%-80%) in 7 (28%) after 3 wk of ACTH therapy.
Despite initial positive response, recurrence of seizure was observed in 7 out of 18 cases with favorable initial response within 3 months after ACTH therapy cessation. The comparison of EEG finding before and 3 months after ACTH therapy using Wilcoxon signed – rank test showed significant differences.
ACTH therapy may be useful in treatment of children with intractable seizures who are resistant to usual antiepileptic drugs. However further studies should be performed to determine the long-term efficacy of ACTH in treatment of intractable seizure.

Diagnostic invasive coronary angiography is known as an important tool for identifying patients with obstructive coronary heart disease. Angiography performance is recommended in patients with high risk of ischemic heart disease.
Coronary arteries angiography data of 1100 subjects from a large population of patients referred to four main heart disease centers in Isfahan city, Iran, were collected during 2016 January-March. Demographic information, cardiac noninvasive test results, body mass index (BMI), smoking habits, hypertension, diabetes mellitus and family background of ischemic heart disease were recorded in using a questionnaire. Data were analyzed using ANOVA and chi-square statistical tests in SPSS software to determine the association between angiography results and cardiovascular risk factors.
Findings: In angiography, 40% of patients did not show any significant obstructive coronary disease and normal angiography was approximately two times more in women than men in the studied populations. 26% and 44% of subjects had a history of diabetes mellitus and hypertension, respectively. 19% of patients had past history of myocardial infarction (MI) and 21% had history of cigarette smoking. Most of the subjects (72%) had overweight and obesity (BMI > 25%). Non-invasive testing, including exercise test and heart scan, was performed in only 42.0% and 2.7% of patients, respectively.
Due to significant economic cost of angiography for the national healthcare system, beside the importance of angiography performance in diagnosing coronary artery diseases, we recommend more studies to clear patient need to angiography.

Despite a general consensus regarding the impacts of early excision and grafting (EE and G) of burned hand on the reducing of treatment cost and hospital stay, there are some controversial issues about its eff ect on the outcome of hand function.Th is study conducted to compare the results of the EE and G and delayed skin grafting in deep hand burns regarding the hand functional outcome.
Th is study was conducted from April 2012 to November 2013 in sixty patients with deep thermal burns of the dorsal hand with total body surface area (TBSA) Th e average percentage of TBSA in the EE and G group was more than the delayed excision group (17.34% ±5.12% vs. 15.64% ±5.83%), this diff erence was not signifi cant (P = 0.23). After 6 months, the average of the TAM and grip strength in the EE and G group was signifi cantly more than that of the delayed group (P Th e present study showed that EE and G with proper physical therapy and rehabilitation management provides a higher functional outcome in dorsal deep burned hand.

Th e second leading cause of cancer deaths in women is breast cancer. Germline mutations in susceptibility breast cancer gene BRCA1 increase the lifetime risk of breast cancer. Eighty-one large genomic rearrangements (LGRs) have been reported up to date in BRCA1 gene, and evaluation of these rearrangements helps with precise risk assessment in high-risk individuals. In this study, we have investigated LGRs in BRCA1 among Iranian high-risk breast cancer families.
Seventy patients with breast cancer who were identifi ed negative for point mutations or small deletions/insertions of BRCA1 gene were selected. Deletions and duplications of BRCA1 gene were evaluated using multiplex ligation-dependent probe amplifi cation (MLPA).
Two deletions, deletion of exons 1A/1B-2 and exon 24, were detected in two patients with breast cancer. Th e former alteration was found in a woman with a strong family history of breast cancer while the latter one was detected in a woman with early onset of breast cancer.
Although our data confi rm that LGRs in BRCA1 comprise a relatively small proportion of mutations in hereditary breast cancer in the Iranian population, MLPA analysis might be considered for screening of LGRs in high-risk individuals.It is worth to note that our results are consistent with previous studies in various Asian and European countries.

Nephronophthisis is of the most commonly inherited ciliopathies that leads to end-stage renal disease in children. The NPHP1 gene is the first identified gene responsible for nephronophthisis and related diseases. This study assessed mutations of the NPHP1 gene in 16 Iranian families with at least one member presenting features of nephronophthisis. Fifty-seven patients diagnosed with chronic kidney disease or end-stage renal disease were referred to Imam Hossein Children Hospital, in Isfahan, Iran. The gene analysis study was carried on 16 patients and their first-degree relatives (40 DNA samples) suspicious of having nephronophthisis. The NPHP1 deletion analysis was performed for exons 5, 7, and 20 of the NPHP1 gene. The patients'' median age was 15 years. The mean and median age of the first presentation was 10.06 ± 2.59 years and 10.5 years, respectively. A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families. High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families. By combining NPHP1 deletion analysis with multiplex-polymerase-chain-reaction-based high-throughput mutation analysis we could identify the molecular disease-cause in 7 of 15 families from Iran. In 8 families, the molecular disease cause remained unknown.

Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in amino acid substitution of cysteine 612 to glutamine in an Iranian patient. This mutation is located in exon 10 within the kinase domain of the protein.

Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in amino acid substitution of cysteine 612 to glutamine in an Iranian patient. This mutation is located in exon 10 within the kinase domain of the protein.

The Duchenne muscular dystrophy (DMD) gene is located in the short arm of the X chromosome (Xp21). It spans 2.4 Mb of the human genomic DNA and is composed of 79 exons. Mutations in the Dystrophin gene result in DMD and Becker muscular dystrophy. In this study, the efficiency of multiplex ligation-dependent probe amplification (MLPA) over multiplex polymerase chain reaction (PCR) assays in an Iranian population was investigated.

Multiplex PCR assays and MLPA analysis were carried out in 74 patients affected with DMD.

Multiplex PCR detected deletions in 51% of the patients with DMD. MLPA analysis could determine all the deletions detected by the multiplex PCR. Additionally, MLPA was able to identify one more deletion and duplication in patients without detectable mutations by multiplex PCR. Moreover, MLPA precisely determined the exact size of the deletions.

Although MLPA analysis is more sensitive for detection of deletions and duplications in the dystrophin gene, multiplex PCR might be used for the initial analysis of the boys affected with DMD in the Iranian population as it was able to detect 95% of the rearrangements in patients with DMD.

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by symmetrical proximal muscle weakness and atrophy. According to the severity of the disease and the age of onset, SMA can be divided into three groups. The survival motor neuron (SMN) gene that is located on 5q13 is identified as the disease determining gene. Another gene in this region is neuronal apoptosis inhibitory protein (NAIP), and its functional role in the pathogenesis of SMA has not been fully elucidated. Here, we investigated the correlation between deletions in SMN and NAIP genes with clinical features of SMA patients.

In the current study, 71 unrelated Iranian patients were investigated for the detection of deletions in SMN1 and NAIP genes. Polymerase chain reaction (PCR) was used to detect the deletions of exon 4 and 5 of the NAIP gene. Deletions in exon 7 and 8 of SMN1 gene were detected by RFLP-PCR with DraI and DdeI, respectively.

Our results showed that 51 patients have homozygous deletions in SMN1 and/or NAIP genes. Among these 51 patients, deletion in NAIP gene were found in 35 patients (65.7% of type I, 22.5% type II and 11.42% type III).

Defect in SMN1 gene plays a major role in manifesting of the disease and NAIP (4 and 5) gene acts as a modifying factor in severity of symptoms. Correlation between NAIP gene defect and severity of the disease is confirmed. However, the exact role of NAIP gene in SMA has yet to be fully clarified.

Our proband is a 29-year-old man, who is affected with soft cleft palate and hypernasality. A study of about six generations of this family pedigree shows that cleft palate has repeatedly occurred in males, with probably a X-linked recessive pattern of inheritance. Interestingly, the sister of the proband is affected with hypernasality and she has an affected son. This is the first report of X-linked inheritance pattern of cleft palate in Iran.

Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein.

In this study، a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA، with increased cholesterol concentration and decreased albumin concentration in serum. PCR and direct DNA sequencing was performed after DNA extraction.

Sequencing analysis revealed a novel homozygous deletion in c. 643 and A>T single nucleotide polymorphism in c. 641 in exon 6 of the APTX gene [ENST00000379825].

It seems that this region of exon 6 is probably a hot spot; however، no deletions have been reported in exon 6 yet.

•Velo-cardio-facial syndrome (VCFS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons, making it the second most prevalent genetic syndrome after Down syndrome and the most common genetic syndrome associated with cleft palate. Most of the 22q11.2 deletion cases are new occurrences or sporadic; however, in about 10 % of families, the deletion is inherited and other family members are affected or at risk for passing this deletion to their children. This report describes a 1.5 years-old male child with clinical signs of velo-cardio-facial syndrome (VCFS) presented with heart defect, soft cleft palate, developmental delay, acrocephaly, seizure, MRI abnormalities and descriptive facial feature, such as hypertelorism. Array-CGH test was done to confirm the diagnosis; the result revealed a 2.6 Mbp deletion in 22q11.2 chromosome that containing TBX1 and COMT genes. Our data suggest that haploinsufficiency of TBX1 gene is probably a major contributor to some of the syndrome characteristic signs, such as heart defect. Because of developmental delay and dysmorphic facial feature were observed in the index's mother and relatives, inherited autosomal dominant form of VCF is probable, and MLPA (multiplex ligation-dependent probe amplification) test should be performed for parents to estimate the recurrent risk in next pregnancy.