文献类型：期刊文献

英文题名：A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa

作者：Zhu, Hongdan[1,2];Zhang, Tao[1,2];Yuan, Hua[1,2];Chen, Yan[1,2];Ding, Jinlong[1,2];Ding, Haigang[1,2];Shi, Xiaoliang[1,2];Gu, Dalei[3];Ma, Yingying[1,2]

机构：[1]Shaoxing Matern & Child Hlth Care Hosp, Shaoxing, Zhejiang, Peoples R China;[2]Shaoxing Univ, Obstet & Gynecol Hosp, Shaoxing, Zhejiang, Peoples R China;[3]Beilun Dist Peoples Hosp, Ningbo, Zhejiang, Peoples R China

年份：2023

卷号：14

外文期刊名：FRONTIERS IN ENDOCRINOLOGY

收录：SCI-EXPANDED(收录号：WOS:001134876100001)、、WOS

基金：The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by the Science Technology Department of Zhejiang Province, China (TGY23H040011, TGY23H040012, LGF21H040003, LGF21H040004, LGF22H180043, GF22H186714) and the Health Commission of Zhejiang Province, China (2023KY368, 2022RC277, 2022KY412, 2022KY413, 2021KY1156); the Science Technology Department of Shaoxing, China (2022A14006, 2022KY036, 2022KY038, 2020A13032, 2020A13034, 2020A13035, 2020A13037, 2020A13039, 2021KY1154, 2021KY1157), the Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China. (2022YF004, 2021YF007).

语种：英文

外文关键词：glycogen storage disease; X-chromosome recessive genetic diseases; PHKA2 gene; whole exome sequencing; 3D structure

外文摘要：Background: Glycogen storage diseases (GSDs) are a group of heterogeneous inherited metabolic disorders with an incidence of 4%-5%. There are 19 types of GSDs, making diagnosis one of the greatest challenges.Methods: The proband and his parents were referred to our hospital for genetic diagnosis. Ultrasound screening suggested hepatomegaly. A novel insertion variant NM_000292 c.1155_1156insT (p. 386N>*) in PHKA2 gene was identified using trio whole exome sequencing (Trio-WES), which resulted in the codon of amino acid 386 from asparagine to termination (p. 386N>*). The 3D mutant protein structure was predicted using AlphaFold, and the results showed that the truncated PHKA2 protein contained 385 of the 1,235 amino acids of the mature protein.Conclusion: We describe a previously unreported case of a GSDs IXa type Chinese boy caused by a novel PHKA2 variant. This clinical case contributes to the understanding of the characteristics of GSDs type IXa and expands the variants spectrum of genes related to GSDs type IXa. Our findings demonstrated the significance of genetic testing in the diagnosis of GSDs.