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[Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2022

Zhao Ganye, Si Wenzhe, Zhao Xuechao, Liu Li'na, Wang Conghui, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a patient with glycogen storage diseases. METHODS: Clinical data of child and his parents were collected. The genes associated with glycogen storage diseases were subjected to high-throughput sequencing to screen the variants. Candidate variant was validated by Sanger sequencing. Pathogenicity of the variant was predicted by bioinformatic analysis. RESULTS:...

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Child
Family
Genetic Testing
Glycogen Storage Disease
High-Throughput Nucleotide Sequencing

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PMID: 36082571
DOI: 10.3760/cma.j.cn511374-20210610-00495

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