Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations

Overview

Journal JIMD Rep

Publisher Wiley

Date 2015 May 27

PMID 26006720

Citations 5

Authors

Hannaneh Foroozani

Maryam Abiri

Shadab Salehpour

Hamideh Bagherian

Zohreh Sharifi

Mohammad Reza Alaei

Shohreh Khatami

Sara Azadmeh

Aria Setoodeh

Leyli Rejali

Farzaneh Rohani

Sirous Zeinali

Affiliations

Soon will be listed here.

Abstract

Newborn screening for PKU has been in practice in Iran since 2007. Some hyperphenylalaninemia cases have tetrahydrobiopterin (BH4) biosynthesis deficiency/disorder. Several genes including QDPR (encodes DHPR enzyme, the necessary cofactor for PAH activity) have been associated with the BH4. Mutations have been previously described in the QDPR gene. The incidence of BH4 deficiency is expected to be higher in Iran due to high rate of consanguineous marriages.We identified a total of 93 BH4-deficient families. A multiplex set of STR markers linked to 4 genes responsible for the BH4 deficiency (i.e., GCH1, PCBD1, PTS, and QDPR genes) was used to quickly determine which gene may be responsible to cause the disease. Mutation analysis of QDPR gene revealed some known and novel mutations. Our findings show that no common mutation predominates, and they are scattered in the gene in our population.

Citing Articles

A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.

Ghanei M, Sadat Fatemi S, Hamzehlouei T Hum Hered. 2023; 88(1):8-17.

PMID: 36646061 PMC: 10750328. DOI: 10.1159/000529037.

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.

Vela-Amieva M, Alcantara-Ortigoza M, Ibarra-Gonzalez I, Gonzalez-Del Angel A, Fernandez-Hernandez L, Guillen-Lopez S Front Genet. 2022; 13:993612.

PMID: 36313470 PMC: 9597361. DOI: 10.3389/fgene.2022.993612.

Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China.

Li L, Qin Y, Su Y, Jiang H, Rejiafu N, Li M J Clin Lab Anal. 2018; 33(2):e22665.

PMID: 30221392 PMC: 6818561. DOI: 10.1002/jcla.22665.

In silico analysis of novel mutations in maple syrup urine disease patients from Iran.

Abiri M, Karamzadeh R, Mojbafan M, Alaei M, Jodaki A, Safi M Metab Brain Dis. 2016; 32(1):105-113.

PMID: 27507644 DOI: 10.1007/s11011-016-9867-1.

Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

Khatami S, Rouhi Dehnabeh S, Zeinali S, Thony B, Alaei M, Salehpour S JIMD Rep. 2016; 32:7-14.

PMID: 27246466 PMC: 5355377. DOI: 10.1007/8904_2016_572.

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