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Mutational landscape of phenylketonuria in Iran

To date more than 1000 different variants in the PAH gene have been identified in patients with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the genetics bases of the PKU in different parts of the country. In this study, we have analysed and present an update of...

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Autores principales: Ajami, Naser, Soleimani, Anvar, Jafarzadeh‐Esfehani, Reza, Hasanpour, Mojtaba, Rashid Shomali, Romina, Abbaszadegan, Mohammad Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468661/
https://www.ncbi.nlm.nih.gov/pubmed/37525467
http://dx.doi.org/10.1111/jcmm.17865
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author Ajami, Naser
Soleimani, Anvar
Jafarzadeh‐Esfehani, Reza
Hasanpour, Mojtaba
Rashid Shomali, Romina
Abbaszadegan, Mohammad Reza
author_facet Ajami, Naser
Soleimani, Anvar
Jafarzadeh‐Esfehani, Reza
Hasanpour, Mojtaba
Rashid Shomali, Romina
Abbaszadegan, Mohammad Reza
author_sort Ajami, Naser
collection PubMed
description To date more than 1000 different variants in the PAH gene have been identified in patients with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the genetics bases of the PKU in different parts of the country. In this study, we have analysed and present an update of the mutational landscape of the PAH gene as well as the population genetics and frequencies of detected variants for each cohort. Published articles on PKU mutations in Iran were identified through a comprehensive PubMed, Google Scholar, Web of Science (ISI), SCOPUS, Elsevier, Wiley Online Library and SID literature search using the terms: “phenylketonuria”, “hyperphenylalaninemia”, and “PKU” in combination with “Iran”, “Iranian population”, “mutation analysis”, and “Molecular genetics”. Among the literature‐related to genetics of PKU, 18 studies were on the PKU mutations. According to these studies, in different populations of Iran 1497 patients were included for mutation detection that resulted in detection of 129 different mutations. Results of genetic analysis of the different cohorts of Iranian PKU patients show that the most prevalent mutation in Iran is the pathogenic splice variant c.1066‐11G > A, occurring in 19.54% of alleles in the cohort. Four other common mutations were p.Arg261Gln, p.Pro281Leu, c.168 + 5G > C and p.Arg243Ter (8.18%, 6.45%, 5.88% and 3.7%, respectively). One notable feature of the studied populations is its high rate of consanguineous marriages. Considering this feature, determining the prevalent PKU mutations could be advantageous for designing screening and diagnostic panels in Iran.
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spelling pubmed-104686612023-09-01 Mutational landscape of phenylketonuria in Iran Ajami, Naser Soleimani, Anvar Jafarzadeh‐Esfehani, Reza Hasanpour, Mojtaba Rashid Shomali, Romina Abbaszadegan, Mohammad Reza J Cell Mol Med Review To date more than 1000 different variants in the PAH gene have been identified in patients with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the genetics bases of the PKU in different parts of the country. In this study, we have analysed and present an update of the mutational landscape of the PAH gene as well as the population genetics and frequencies of detected variants for each cohort. Published articles on PKU mutations in Iran were identified through a comprehensive PubMed, Google Scholar, Web of Science (ISI), SCOPUS, Elsevier, Wiley Online Library and SID literature search using the terms: “phenylketonuria”, “hyperphenylalaninemia”, and “PKU” in combination with “Iran”, “Iranian population”, “mutation analysis”, and “Molecular genetics”. Among the literature‐related to genetics of PKU, 18 studies were on the PKU mutations. According to these studies, in different populations of Iran 1497 patients were included for mutation detection that resulted in detection of 129 different mutations. Results of genetic analysis of the different cohorts of Iranian PKU patients show that the most prevalent mutation in Iran is the pathogenic splice variant c.1066‐11G > A, occurring in 19.54% of alleles in the cohort. Four other common mutations were p.Arg261Gln, p.Pro281Leu, c.168 + 5G > C and p.Arg243Ter (8.18%, 6.45%, 5.88% and 3.7%, respectively). One notable feature of the studied populations is its high rate of consanguineous marriages. Considering this feature, determining the prevalent PKU mutations could be advantageous for designing screening and diagnostic panels in Iran. John Wiley and Sons Inc. 2023-07-31 /pmc/articles/PMC10468661/ /pubmed/37525467 http://dx.doi.org/10.1111/jcmm.17865 Text en © 2023 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Ajami, Naser
Soleimani, Anvar
Jafarzadeh‐Esfehani, Reza
Hasanpour, Mojtaba
Rashid Shomali, Romina
Abbaszadegan, Mohammad Reza
Mutational landscape of phenylketonuria in Iran
title Mutational landscape of phenylketonuria in Iran
title_full Mutational landscape of phenylketonuria in Iran
title_fullStr Mutational landscape of phenylketonuria in Iran
title_full_unstemmed Mutational landscape of phenylketonuria in Iran
title_short Mutational landscape of phenylketonuria in Iran
title_sort mutational landscape of phenylketonuria in iran
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468661/
https://www.ncbi.nlm.nih.gov/pubmed/37525467
http://dx.doi.org/10.1111/jcmm.17865
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