Investigation Genetic Causes Of Hereditary Intellectual Disability in Ahvaz (1390-1391)

About 70% of intellectual disabilities (ID) caused by genetic factors. In this study we decided to investigate genetic causes of ID in 40 families from Ahvaz to provide information for genetic counseling، carrier detection، and prenatal diagnosis. In this study DNA was extracted from peripheral blood lymphocytes following a standard protocol. For physical malformations karyotyping for each proband was performed. From each family One affected was tested for FMR1 mutation and metabolic screening. Families with ID and primary microcephaly were checked for 7 known MCPH genes by linkage analysis. Chromosomal abnormality was not found in any of the families. 3 family had full mutation of CGG repeat of Fragile-X syndrome. 3 families showed primary microcephaly but we did not detect any linkage to MCPH loci. According to our results genetic causes of ID and autosomal recessive primary microcephaly are very heterogeneous.