Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations

Pediatric Research
Tianwen ZhuXuefan Gu

Abstract

The absence of a comprehensive analysis for phenylketonuria (PKU) mutations in the Chinese Han population has resulted in continued studies during the past 18 y to elucidate the mutational spectrum in patients from virtually all Chinese regions. Our study systematically investigated 13 exons and their surrounding introns of the phenylalanine hydroxylase (PAH) gene in 212 unrelated patients using PCR and direct sequencing. A total of 79 different mutations were identified in 405 of 424 mutant PAH alleles including 15 novel ones. Eight mutations, R243Q, Ex6-96A>G, IVS4 - 1G>A, R413P, Y356X, R111X, R241C, and V399V, with a relative frequency of 3% or more, accounted for two thirds of the identified ones. The data presented in this study indicates that the total pool of mutant PAH alleles in China consisted of a small number of common mutations and a very high number of rare mutations. Moreover, by merging the findings of previous studies to generate a more composite data set for the Chinese mainland, it is shown that there are no significant differences of the common mutations between southern and northern except for R413P statistically, raising questions about the previous hypothesis that great variations on mutation frequencies ...Continue Reading

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Citations

Apr 22, 2015·European Journal of Pediatrics·Ya-fen ChenXin-ye Jiang
May 14, 2016·Pediatrics International : Official Journal of the Japan Pediatric Society·Sumito DatekiHiroyuki Moriuchi
Feb 3, 2018·Scandinavian Journal of Clinical and Laboratory Investigation·Zhan ZhangPing Wang
Nov 28, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Lin WangRong Qiang
Feb 8, 2018·The Kaohsiung Journal of Medical Sciences·Zhen-Wen WangBao-Cheng Zhou
Apr 19, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Nan YangYuan-Yuan Kong
Oct 17, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Rihwa ChoiDong Hwan Lee
Feb 17, 2018·Analytical Chemistry·Xiaonan LiuXue Zhang
Jan 14, 2022·Journal of Pediatric Endocrinology & Metabolism : JPEM·Lin WangXiaobin Wang

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