جستجوی مقالات مرتبط با کلیدواژه "non-syndromic hearing loss" در نشریات گروه "پزشکی"

After GJB2, SLC26A4 is the second most common contributor to autosomal recessive nonsyndromic hearing loss (ARNSHL) worldwide. In this study, we used Exome Sequencing (ES) to present a village with 31 individuals affected by hereditary hearing loss (HHL) in southeastern Iran near the border of Pakistan. The village harbored the known pathogenic missense SLC26A4 (NM_000441.2):c.716T>A (p.Val239Asp) mutation, which has a founder effect attributed to Pakistan, Iran’s southeastern neighbor. Our findings, in addition to unraveling the molecular cause of non-syndromic hearing loss in these patients and further confirming the common ancestry and migration story between the people of this region and Pakistan, provide further insight into the genetic background of this region and highlight the importance of understanding the mutation spectrum of GJB2 and SLC26A4 in different regions to choose cost-effective strategies for molecular genetic testing.

Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of ES and re-evaluate the phenotypic data for identifying candidate causal variants for previously unexplained progressive moderate to severe NSHL in an extended Iranian family. Using this method, we identified a known heterozygous nonsense variant in exon 26 of the DIAPH1 gene (MIM: 602121), which led to “Deafness, autosomal dominant 1, with or without thrombocytopenia; DFNA1” (MIM: 124900) in this large family in the absence of GJB2 disease-causing variants and also OtoSCOPE-negative results. To the best of our knowledge, this nonsense variant (NM_001079812.3):c.3610C>T (p.Arg1204Ter) is the first report of the DIAPH1 gene variant for autosomal dominant non-syndromic hearing loss (ADNSHL) in Iran.

Hearing loss, especially at a young age, has severe personal and social consequences for a person and brings enormous costs to the treatment system. Considering the vital role of genetics in hearing loss, genetics research creates a suitable platform for progress in the treatment of these patients, so we decided to conduct a study with the aim of early diagnosis and even before symptoms appear in order to reduce possible complications.

In this study early diagnosis of hearing loss and even before symptoms appear in order to reduce possible complications.

Based on the history and phenotype and examination of the medical records of 1249 patients who are candidates for cochlear implantation, genetic testing among the patients suspected of non-syndromic genetic hearing loss, a request for genetic testing of stage one or two or both was made and according to the willingness of the families and their cooperation A total of 138 genetic tests were performed and subjected to genetic analysis.

Among 138 tested cases, 71 women and 67 men, NSHL inheritance autosomal recessive pattern was 84/78% and autosomal dominant, 5/07 which is very close to previous studies. There were genetic mutations in the Gjb2 gene in ten cases of patients. Ninety-one patients were negative for GJB2 involvement and were candidates for WES, but unfortunately, many families refused to perform the test due to the cost of this test. Seven patients underwent WES, and several genetic mutations were identified in the thesis. WES was performed for 34 patients according to the investigations carried out directly.

Iranian society has played an essential role in improving our understanding of the genes involved in proper hearing functioning and how these genes' variants cause hearing loss. Researchers have worked tirelessly to solve the genetic mystery of hearing loss in Iran, which has been very successful. However, more work is still needed.

MYO15A is the third most crucial gene in hereditary sensorineural hearing loss after GJB2 and SLC26A4. In the present study, we reviewed the prevalence of MYO15A mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL). In this meta-analysis, we conducted a search of PubMed, Web of Science, Excerpta Medica Database, and Scopus, and identified the articles up to September 2019 without any time limit. Two investigators independently selected the relevant papers and extracted the required information. A total of 44 case-control and case series studies were considered, and 4176 patients and 3706 healthy individuals, as the control group, were included. The pooled frequency of MYO15A mutations between patients suffering from ARNSHL was calculated as 6.2% (95% CI: 4.9-7.8, P-value<0.001). There was heterogeneity between our studies (P-value<0.001, I2=58.1%); therefore, the random-effects model was utilized for analysis. Given the results, in many countries, the MYO15A gene had a significant contribution to hearing loss. Moreover, in several regions, specific dominant mutations in this gene have been reported. Therefore, the ethnic background should be considered to investigate the mutations of the MYO15A gene.