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Arch Iran Med. 2021;24(10): 747-751.
doi: 10.34172/aim.2021.110
  Abstract View: 877
  PDF Download: 346

Original Article

The PTRHD1 Mutation in Intellectual Disability

Sara Cheraghi 1,2 ORCID logo, Sahar Moghbelinejad 3, Hossein Najmabadi 4, Kimia Kahrizi 4, Reza Najafipour 4* ORCID logo

1 Department of Molecular Medicine, Faculty of Medical Sciences, Qazvin University of Medical Sciences, Qazvin, Iran
2 Student Research Committee, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
3 Cellular and Molecular Research Centre, Qazvin University of Medical Sciences, Qazvin, Iran
4 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
*Corresponding Author: *Corresponding Author: Reza Najafipour, MD; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, Kodakyar Ave., Daneshjo Blvd., Evin, Post code: 1985713834, Tel: +98-21- 22180138; Email: , Email: rnajafipour@gmail.com

Abstract

Background: 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.



Cite this article as: Cheraghi S, Moghbelinejad S, Najmabadi H, Kahrizi K, Najafipour R. The PTRHD1 mutation in intellectual disability. Arch Iran Med. 2021;24(10):747-751. doi: 10.34172/aim.2021.110
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Submitted: 02 Jan 2021
Revision: 13 Feb 2021
Accepted: 20 Feb 2021
ePublished: 01 Oct 2021
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