The PTRHD1 Mutation in Intellectual Disability.

Sara Cheraghi,Hossein Najmabadi,Kimia Kahrizi,Reza Najafipour,Sahar Moghbelinejad

doi:10.34172/aim.2021.110

Abstract

Intellectual disability (ID) is a heterogonous disorder with complex etiology. The frequency of autosomal recessive inheritance defects was elevated in a consanguineous family. 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. A novel homozygous missense mutation (p.Arg122Trp) was detected in the PTRHD1 gene. 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.

Highlights

Intellectual disability (ID), with close to 3% prevalence, is one of the most common neurodevelopmental disorders.[1]
We identified a homozygous mutation in the peptidyltRNA hydrolase domain containing 1 (PTRHD1) gene in the patients
A novel missense mutation, NM_001013663: c.364C>T; p.Arg122Trp was identified in the PTRHD1 gene with autosomal recessive inheritance

Summary

Introduction

Intellectual disability (ID), with close to 3% prevalence, is one of the most common neurodevelopmental disorders.[1]. Iran has a high frequency of relative marriage (approximately 40%).[11,12] Our molecular investigation highlighted the autosomal recessive of ID as the genetic cause in this family. Intellectual disability (ID) is a heterogonous disorder with complex etiology. Methods: In this study, high-throughput DNA sequencing was performed in an Iranian consanguineous family with two affected individuals to find potential causative variants.

Methods

Results

Conclusion