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01-06-2021 | Phenylketonuria | Review Article

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review

Authors: Reza Alibakhshi, Aboozar Mohammadi, Nader Salari, Sahand Khamooshian, Mohsen Kazeminia, Keivan Moradi

Published in: Metabolic Brain Disease | Issue 5/2021

Abstract

As one of the highest prevalence rates in the world, the prevalence of Phenylketonuria (PKU) in Iran has been estimated at 16.5 per 100,000 neonates. The objective of this study was to evaluate the spectrum and frequency of mutations of the phenylalanine hydroxylase (PAH) gene in Iranian PKU patients. A systematic review was carried out on previous studies on PAH gene mutations in Iranian PKU patients. A complete search was carried out on the on-line databases of Scopus, Web of Science, PubMed/Medline, ProQuest, Science Direct, Magiran, SID and the search engine Google Scholar. The keywords of Phenylketonuria, PKU, Phenylalanine Hydroxylase, PAH, and Iran, as well as their Persian equivalents, in all possible combinations were used. Finally, a total of 21 eligible articles with a sample size of 1547 Iranian PKU patients, published between 2003 and 2020, were included in our systematic review. A total of 129 different PAH gene mutations including, IVS10–11G > A (c.1066-11G > A) (19.23%), p.R261Q (c.782G > A) (7.63%), p.P281L (c.842C > T) (6.24%), IVS2 + 5G > C (c.168 + 5G > C) (5.75%), p.R243* (c.727C > T) (3.59%), IVS9 + 5G > A (c.969 + 5G > A) (2.84%), p.R176* (c.526C > T) (2.42%), p.Lys363Nfs*37 (c.1089delG) (2.13%), IVS11 + 1G > C (c.1199 + 1G > C) (2.07%) and p.L48S (c.143 T > C) (2.04%) were identified. The spectrum and frequency of mutations observed in Iran were closer to those observed in the Mediterranean countries. Our results are valuable in planning panel-based studies in provinces with incomplete data on PAH gene mutations. This study is a good reference for genetic counselors and physicians who advise couples in making decisions to maintain or terminate a pregnancy.

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Title: Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review
Authors: Reza Alibakhshi
Aboozar Mohammadi
Nader Salari
Sahand Khamooshian
Mohsen Kazeminia
Keivan Moradi
Publication date: 01-06-2021
Publisher: Springer US
Keyword: Phenylketonuria
Published in: Metabolic Brain Disease / Issue 5/2021
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-021-00698-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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