First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population

Ziba Soltani; Fatemeh Karami; Vahidreza Yassaee; Feyzollah Hashemi Gorji; Mahdieh Talebzadeh; Mohammad Miryounesi

doi:10.5812/ircmj.21633

First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population

Iran Red Crescent Med J. 2016 Jan 1;18(2):e21633. doi: 10.5812/ircmj.21633. eCollection 2016 Feb.

Authors

Ziba Soltani¹, Fatemeh Karami², Vahidreza Yassaee¹, Feyzollah Hashemi Gorji¹, Mahdieh Talebzadeh¹, Mohammad Miryounesi¹

Affiliations

¹ Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
² Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IR Iran.

Abstract

Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%).

Case presentation: We reported a patient with classic PKU and his parents harboring a large deletion in exon 3 (EX3del4765) of PAH gene. This is the first case report of EX3del4765 in Asian patients with PKU.

Conclusions: This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.

Keywords: Gene Deletion; Phenylalanine Hydroxylase; Phenylketonuria.

Publication types

Case Reports