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Sci Rep. 2015 Oct 27;5:15769. doi: 10.1038/srep15769.

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Li N1,2, Jia H3, Liu Z1,2, Tao J1,2, Chen S3, Li X1,4, Deng Y1,2, Jin X1,2, Song J3, Zhang L3, Liang Y3, Wang W3, Zhu J1,2,4.

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National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sec. 3 No. 20, South RenMin Road, Chengdu, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Sec. 3 No. 20, South RenMin Road, Chengdu, Sichuan, China.
BGI-Shenzhen, Building No. 11, Beishan Industrial Zone, Yantian District, Shenzhen, Guangdong China.
Laboratory of Molecular Epidemiology for birth defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, China.


Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of phenylalanine hydroxylase (PAH). The incidence of various PAH mutations differs among race and ethnicity. Here we report a spectrum of PAH mutations complied from 796 PKU patients from mainland China. The all 13 exons and adjacent intronic regions of the PAH gene were determined by next-generation sequencing. We identified 194 different mutations, of which 41 are not reported before. Several mutations reoccurred with high frequency including p.R243Q, p.EX6-96A > G, p.V399V, p.R241C, p.R111*, p.Y356*, p.R413P, and IVS4-1G > A. 76.33% of mutations were localized in exons 3, 6, 7, 11, 12. We further compared the frequency of each mutation between populations in northern and southern China, and found significant differences in 19 mutations. Furthermore, we identified 101 mutations that are not reported before in Chinese population, our study thus broadens the mutational spectrum of Chinese PKU patients. Additionally, 41 novel mutations will expand and improve PAH mutation database. Finally, our study offers proof that NGS is effective, reduces screening times and costs, and facilitates the provision of appropriate genetic counseling for PKU patients.

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