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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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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. |
format | Online Article Text |
id | pubmed-10468661 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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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