Intellectual disability (ID) is one of the most common neurodevelopment disorders that caused by both environment and genetic factors. Genetic diseases account for 50% of ID incidents and have important role in its development. One of the most important risk factors of ID in most countries is consanguineous marriage. In consanguineous families, the risk of developing autosomal recessive ID is 3.6-fold higher. There is high prevalence of consanguineous marriage in Iran (about 40 %).
In this study, we aimed to investigate the pathological variants of aminoacyl-trna-synthetase-interacting multifunctional protein 1 (AIMP1) in an Iranian consanguineous family with multiple-ID affected members.
this analytical epidemiological study, whole exome sequencing method was used to examine the molecular etiology in two female ID patients of a consanguineous family living in Qazvin, Iran. Sanger sequencing was carried out for validating potential causative variants in patients, and co-segregation analysis for other family members.
A stop-gain variant (p. Arg158*) in the AIMP1 gene was identified as pathological variant in the study family according to American College of Medical Genetics and Genomics guidelines.
The found variant in the AIMP1 gene caused truncated protein and clinical manifestations such as developmental delay, ID, spastic paraplegia, thin corpus callosum, and speech impairment in the two patients.
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