Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province
10.3760/cma.j.issn.1003-9406.2019.11.002
- VernacularTitle: 福建泉州地区高苯丙氨酸血症相关基因变异特征的研究
- Author:
Run SU
1
;
Lin ZHU
2
;
Yiming LIN
1
;
Jianhua ZHU
2
;
Faming ZHENG
1
;
Qingliu FU
1
Author Information
1. Neonatal Disease Screening Center in Quanzhou, Quanzhou Women and Children’s Health Care Hospital, Quanzhou, Fujian 362000, China
2. Hangzhou Genuine Diagnostics Company Limited, Hangzhou, Zhejiang 310007, China
- Publication Type:Journal Article
- Keywords:
Hyperphenylalaninemia;
Phenylalanine hydroxylase;
6-pyruvoyl tetrahydropterin synthase;
Variant
- From:
Chinese Journal of Medical Genetics
2019;36(11):1062-1066
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the spectrum of genetic variants among patients with hyperphenylalaninemia (HPA) from Quanzhou area of Fujian province.
Methods:For 63 children affected with HPA, next generation sequencing was used to identify potential variants in PAH, PTS, PCBD1, QDPR, SPR and GCH1 genes.
Results:Fifty two variants underlying phenylalanine hydroxylase deficiency (PAHD) and 13 variants underlying 6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) were identified. Two patients carried variants of both PAH and PTS genes. The most common variants of the PAH gene were R53H (21.69%), R241C (18.07%), R243Q (12.05%) and EX6-96A>G (7.23%), which were mainly located in exons 7 (32.53%), 2 (21.69%), 6 (9.64%) and 12 (9.64%). The L227M variant of the PAH gene was unreported previously. N52S (35.00%), P87S (25.00%), IVS1-291A>G (10.00%) and T67M (10.00%) variants were the most common variants for the PTS gene and were mainly located in exons 2 (35.00%) and 5 (35.00%).
Conclusion:The variant spectrum underlying HPA in Quanzhou area showed a geographical specificity. A novel variant of the PAH gene (L227M) has been detected.
