[因PHKA2基因新变异导致的IXa型糖原贮积病患儿的基因分析]
[Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].
作者信息
Zhao Ganye, Si Wenzhe, Zhao Xuechao, Liu Li'na, Wang Conghui, Kong Xiangdong
机构信息
Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Sep 10;39(9):988-991. doi: 10.3760/cma.j.cn511374-20210610-00495.
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
High-throughput sequencing results showed that the boy has carried a hemizygous c.749C>T (p.S250L) variant of the PHKA2 gene. Sanger sequencing verified the results and confirmed that it was inherited from his mother. This variant was unreported previously and predicted to be pathogenic by bioinformatic analysis.
CONCLUSION
The patient was diagnosed with glycogen storage disease type IXa due to a novel c.749C>T (p.S250L) hemizygous variant of the PHKA2 gene. High-throughput sequencing can facilitate timely and accurate differential diagnosis of glycogen storage disease type IXa.
目的
探讨一名糖原贮积病患者的遗传病因。
方法
收集患儿及其父母的临床资料。对与糖原贮积病相关的基因进行高通量测序以筛选变异。候选变异通过桑格测序进行验证。通过生物信息学分析预测变异的致病性。
结果
高通量测序结果显示该男孩携带PHKA2基因的半合子c.749C>T（p.S250L）变异。桑格测序验证了结果，并证实其遗传自母亲。该变异此前未见报道，经生物信息学分析预测为致病性变异。
结论
该患者因PHKA2基因新的c.749C>T（p.S250L）半合子变异被诊断为IXa型糖原贮积病。高通量测序有助于IXa型糖原贮积病的及时、准确鉴别诊断。
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