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

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...

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Autores principales: Soltani, Ziba, Karami, Fatemeh, Yassaee, Vahidreza, Hashemi Gorji, Feyzollah, Talebzadeh, Mahdieh, Miryounesi, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862320/
https://www.ncbi.nlm.nih.gov/pubmed/27175306
http://dx.doi.org/10.5812/ircmj.21633
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author Soltani, Ziba
Karami, Fatemeh
Yassaee, Vahidreza
Hashemi Gorji, Feyzollah
Talebzadeh, Mahdieh
Miryounesi, Mohammad
author_facet Soltani, Ziba
Karami, Fatemeh
Yassaee, Vahidreza
Hashemi Gorji, Feyzollah
Talebzadeh, Mahdieh
Miryounesi, Mohammad
author_sort Soltani, Ziba
collection PubMed
description 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.
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spelling pubmed-48623202016-05-12 First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population Soltani, Ziba Karami, Fatemeh Yassaee, Vahidreza Hashemi Gorji, Feyzollah Talebzadeh, Mahdieh Miryounesi, Mohammad Iran Red Crescent Med J Case Report 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. Kowsar 2016-01-01 /pmc/articles/PMC4862320/ /pubmed/27175306 http://dx.doi.org/10.5812/ircmj.21633 Text en Copyright © 2016, Iranian Red Crescent Medical Journal. http://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
spellingShingle Case Report
Soltani, Ziba
Karami, Fatemeh
Yassaee, Vahidreza
Hashemi Gorji, Feyzollah
Talebzadeh, Mahdieh
Miryounesi, Mohammad
First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
title First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
title_full First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
title_fullStr First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
title_full_unstemmed First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
title_short First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
title_sort first case report of ex3del4765 mutation in pah gene in asian population
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862320/
https://www.ncbi.nlm.nih.gov/pubmed/27175306
http://dx.doi.org/10.5812/ircmj.21633
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