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Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) i...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Tehran University of Medical Sciences
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5439047/ https://www.ncbi.nlm.nih.gov/pubmed/28540274 |
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author | RAZIPOUR, Masoumeh KOOSHAVAR, Daniz ALAVINEJAD, Elaheh SAJEDI, Seyede Zahra MOHAJER, Neda SETOODEH, Aria TALEBI, Saeed KERAMATIPOUR, Mohammad |
author_facet | RAZIPOUR, Masoumeh KOOSHAVAR, Daniz ALAVINEJAD, Elaheh SAJEDI, Seyede Zahra MOHAJER, Neda SETOODEH, Aria TALEBI, Saeed KERAMATIPOUR, Mohammad |
author_sort | RAZIPOUR, Masoumeh |
collection | PubMed |
description | Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015. We used PCR-Sequencing to identify any sequence variations in the PAH gene. |
format | Online Article Text |
id | pubmed-5439047 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Tehran University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-54390472017-05-24 Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report RAZIPOUR, Masoumeh KOOSHAVAR, Daniz ALAVINEJAD, Elaheh SAJEDI, Seyede Zahra MOHAJER, Neda SETOODEH, Aria TALEBI, Saeed KERAMATIPOUR, Mohammad Iran J Public Health Case Report Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015. We used PCR-Sequencing to identify any sequence variations in the PAH gene. Tehran University of Medical Sciences 2017-04 /pmc/articles/PMC5439047/ /pubmed/28540274 Text en Copyright© Iranian Public Health Association & Tehran University of Medical Sciences http://creativecommons.org/licenses/by/3.0/ 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 work is properly cited. |
spellingShingle | Case Report RAZIPOUR, Masoumeh KOOSHAVAR, Daniz ALAVINEJAD, Elaheh SAJEDI, Seyede Zahra MOHAJER, Neda SETOODEH, Aria TALEBI, Saeed KERAMATIPOUR, Mohammad Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report |
title | Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report |
title_full | Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report |
title_fullStr | Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report |
title_full_unstemmed | Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report |
title_short | Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report |
title_sort | identification of a novel mutation in the pah gene in an iranian phenylketonuria family: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5439047/ https://www.ncbi.nlm.nih.gov/pubmed/28540274 |
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