MAGEL2基因杂合变异致婴儿期Schaaf-Yang综合征1例的临床特征与遗传学分析  

Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene

作　　者：龚姣娥[1] 江志[1] 胡文静[1] 廖红梅[1] 王华 Gong Jiaoe;Jiang Zhi;Hu Wenjing;Liao Hongmei;Wang Hua(Department of Neurology,Hunan Provincial Children′s Hospital,Changsha,Hunan 410007,China)

机构地区：[1]湖南省儿童医院神经内科,长沙410007

出　　处：《中华医学遗传学杂志》2023年第10期1284-1287,共4页Chinese Journal of Medical Genetics

基　　金：湖南省自然科学基金(2021JJ30389);湖南省卫健委科研课题(20200475)。

摘　　要：目的探讨1例Schaaf-Yang综合征(SYS)患儿的诊疗过程与遗传学分析。方法以2020年6月10日就诊于湖南省儿童医院的1例SYS患儿作为研究对象。对患儿及其父母进行全外显子组检测,对候选变异进行Sanger测序家系验证。通过预测野生型与变异型蛋白的结构来分析其危害性。结果基因检测提示患儿携带MAGEL2基因杂合移码变异c.1908delG(p.R637Gfs*65),其父母该位点均为野生型,提示为新发。该变异未被相关公共数据库收录,既往未见文献报道。该变异可造成MAGEL2蛋白仅保留部分脯氨酸结构域,导致蛋白功能破坏或下调。结论MAGEL2基因的c.1908delG(p.R637Gfs*65)新发变异可能是本研究患儿的遗传学病因,结合其临床特征诊断为SYS。上述发现丰富了MAGEL2基因的变异谱。Objective To explore the diagnosis,treatment and genetic analysis of an infant with Schaaf-Yang syndrome(SYS).Methods An infant suspected for SYS at the Hunan Provincial Children′s Hospital on June 10,2022 was subjected to trio-whole exome sequencing,and Sanger sequencing was used to verify the candidate variant.Structure of the wild-type and variant proteins was constructed to analyze the potential hazard.Results The infant was found to harbor a heterozygous frameshifting variant of c.1908delG(p.R637Gfs*65)of the MAGEL2 gene,which was found in neither of his parents.The variant has not been recorded by the public databases,and no relevant literature was retrieved.As the result of the variant,the MAGEL2 protein only retained part of its proline domain,which may lead to destruction and/or down-regulation of its function.Conclusion The c.1908delG(p.R637Gfs*65)variant of the MAGEL2 gene probably underlay the pathogenesis in this child.Combined with his clinical characteristics,the child was diagnosed with SYS.Above finding has also enriched the mutational spectrum of the MAGEL2 gene.

关 键 词：Schaaf-Yang综合征 MAGEL2基因 印记基因 PRADER-WILLI综合征 

分 类 号：R725.9[医药卫生—儿科]