Genetic analysis of 43 children with hyperphenylalaninemia in some regions of Sichuan

ZHANG Ya-guo; YE Piao; OU Ming-cai; YANG Yun-xia; CHEN Xue-lian; YANG Li-juan

doi:10.11852/zgetbjzz2020-0855

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Chinese Journal of Child Health Care ›› 2020, Vol. 28 ›› Issue (11) : 1255-1258. DOI: 10.11852/zgetbjzz2020-0855

Genetic analysis of 43 children with hyperphenylalaninemia in some regions of Sichuan

ZHANG Ya-guo¹, YE Piao², OU Ming-cai¹, YANG Yun-xia¹, CHEN Xue-lian¹, YANG Li-juan¹

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Abstract

Objective To investigate the characteristics of gene mutations in children with hyperphenylalaninemia(HPA) in some regions of Sichuan, so as to provide basis for genetic diagnosis, prenatal diagnosis and genetic counseling of patients. Method PAH, PTS, QDPR, PCBD1, SPR and GCH1 genes of 43 HPA children were analyzed by next-generation sequencing technology (NGS). Results Totally 35 cases with PAH gene mutation and 8 cases with PTS gene mutation were detected.The most common mutations of PAH in the top three were p.R243Q, p.R241C and p.Ex6-96A>G.Finally 28 mutations (39.4%) were identified in exon 7.The p.G272V mutation of PAH had not been reported previously.The p.P87S, p.Y27Rfs*8, p.D96N and p.V56M mutations were the most common mutations of PTS.And 8 mutations (50.0%) were identified in exon 5.The p.T58R mutation of PTS was not reported previously. Conclusion The mutational spectrum of HPA-related genes in some regions of Sichuan is preliminarily constructed in this study, and a new mutation is detected in PAH and PTS respectively, which will provide reliable basis for genetic diagnosis and genetic counseling of patients with HPA in this region.

Key words

hyperphenylalaninemia / phenylalanine hydroxylase / 6-pyruvoyl tetrahydropterin synthase / gene mutation

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ZHANG Ya-guo, YE Piao, OU Ming-cai, YANG Yun-xia, CHEN Xue-lian, YANG Li-juan. Genetic analysis of 43 children with hyperphenylalaninemia in some regions of Sichuan[J]. Chinese Journal of Child Health Care. 2020, 28(11): 1255-1258 https://doi.org/10.11852/zgetbjzz2020-0855

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