Author/Authors :
Cheraghi, Sara Department of Molecular Medicine - Faculty of Medical Sciences - Qazvin University of Medical Sciences, Qazvin, Iran , Moghbelinejad, Sahar Cellular and Molecular Research Centre -- Qazvin University of Medical Sciences, Qazvin, Iran , Najmabadi, Hossein Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Kahrizi, Kimia Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Najafipour, Reza Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Abstract :
Intellectual disability (ID) is a heterogonous disorder with complex etiology. The frequency of autosomal recessive inheritance defects was elevated in a consanguineous family.
Methods: In this study, high-throughput DNA sequencing was performed in an Iranian consanguineous family with two affected individuals to find potential causative variants. Whole-exome sequencing was carried out on the proband and Sanger sequencing was implemented for validation of the likely causative variant in the family members.Results: A novel homozygous missense mutation (p.Arg122Trp) was detected in the PTRHD1 gene.
Conclusion: PTRHD1 has been recently introduced as a candidate ID and Parkinsonism causing gene. Our findings are in agreement with the clinical spectrum of PTRHD1 mutations; however, our affected individuals suffer from ID manifestations.
Keywords :
Iran , Consanguinity , Autosomal recessive intellectual disability , Mutation , Whole exome sequencing
