一例糖原贮积症Ⅵ型患儿的临床表型及致病变异分析  

Clinical features and genetic analysis of a child with glycogen storage disease typeⅥ

作　　者：苏利沙[1] 朱朝锋[1] 吴静[1] 孔祥东[1] Su Lisha;Zhu Chaofeng;Wu Jing;Kong Xiangdong(Genetics and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,郑州450052

出　　处：《中华医学遗传学杂志》2022年第10期1099-1102,共4页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2018YFC1002203)。

摘　　要：目的对一例糖原贮积症Ⅵ型(glycogen storage diseaseⅥ,GSD-Ⅵ)患儿进行表型和致病变异分析,明确其遗传学病因。方法分析患儿的临床资料,应用全外显子组测序(whole exome sequencing,WES)对其进行致病变异检测,用Sanger测序对候选变异进行验证。结果患儿男,3岁9个月,表现为腹部膨隆、肝脏肿大、身材矮小,WES检测发现其携带PYGL基因c.320dupA(p.Asn107fs)和c.697G>A(p.Gly233Ser)复合杂合变异,Sanger测序证实二者分别遗传自其父母,其中c.320dupA(p.Asn107fs)既往未见报道。结论上述发现明确了该GSD-Ⅵ患儿的遗传学病因,丰富了PYGL基因的变异谱,并为患儿的治疗和遗传咨询提供了依据。Objective To explore the clinical features and genetic etiology of a child with glycogen storage diseaseⅥ(GSD-Ⅵ).Methods Clinical data and laboratory results of the patient were collected.Whole exome sequencing(WES)was carried out for the patient.Candidate variant and its parental origin was verified by Sanger sequencing.Results The patient was a 3-year-and-9-month old boy whom has featured abdominal distention,hepatomegaly,short stature and elevated hepatic transaminase.WES revealed the he has harbored compound heterozygous variants of the PYGL gene,namely c.697G>A(p.Gly233Ser)and c.320dupA(p.Asn107fs).Sanger sequencing has verified that the two variants have derived from his father and mother,respectively.The c.320dupA(p.Asn107fs)variant was unreported previously.Conclusion The compound heterozygous variants of the PYGL gene probably underlay the GSD-Ⅵin this patient.Above finding has enriched the spectrum of PYGL gene variants and provided a basis for the treatment and genetic counseling.

关 键 词：糖原贮积症Ⅵ型 PYGL基因 全外显子组测序 

分 类 号：R725.8[医药卫生—儿科]