alexa Identification of a Rare Mutation Causing Hereditary Tyrosinemia Type 1 in an Iranian Child Compound with Dextrocardia Phenotype
ISSN: 2165-8048

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Case Report

Identification of a Rare Mutation Causing Hereditary Tyrosinemia Type 1 in an Iranian Child Compound with Dextrocardia Phenotype

Reza Vazifehmand*, Dhuha Saeed Ali, Seyed Abbas Ghasemi Ahangarkolaee and Mohammad Javad Rafee Poor
Department of biomedical sciences, Faculty of Medicine and Health Sciences, Malaysia
*Corresponding Author : Reza Vazifehmand
Human Genetics, Department of biomedical sciences
Faculty of Medicine and Health Sciences
43400, University Putra Malaysia, Malaysia
E-mail: [email protected]
Received: November 16, 2015 Accepted: November 25, 2015 Published: December 2, 2015
Citation: Vazifehmand R, Ali DS, Ahangarkolaee SAG, Poor MJR (2015) Identification of a Rare Mutation Causing Hereditary Tyrosinemia Type 1 in an Iranian Child Compound with Dextrocardia Phenotype. InternMed 6:210. doi:10.4172/2165-8048.1000210
Copyright: © 2015 Vazifehmand R, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Different mutations in fumarylacetoacetatase (FAH) gene can lead to tyrosinemia type1 (HT1), relatively rare autosomal disorders. Nearly 50 mutations in FAH gene have been identified in different races around the world. Here we presented a boy aged 2 years and 9 months old was diagnosed with HT1 compound with dextrocardia based on his biochemical abnormality and cardio logical examinations. Screening of FAH gene exposed a heterozygous nonsense mutation R237X that was not already reported in Iranian patients. This mutation revealed a chronic progression of disease in this child.

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