一个Shprintzen-Goldberg综合征家系的表型与基因变异分析  

Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome

作　　者：石佳旻 孙君慧 陈源 朱棉棉 王楸[1] 卢朝升[1] 王丹[1] Shi Jiamin;Sun Junhui;Chen Yuan;Zhu Mianmian;Wang Qiu;Lu Chaosheng;Wang Dan(Department of Pediatrics,the First Affiliated Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325000,China;Department of Reproductive Medicine Center,the First Affiliated Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325000,China)

机构地区：[1]温州医科大学附属第一医院儿科,浙江325000 [2]温州医科大学附属第一医院生殖医学中心,浙江325000

出　　处：《中华医学遗传学杂志》2022年第7期703-707,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81701485)。

摘　　要：目的对1例Shprintzen-Goldberg综合征患儿的临床表型和基因变异进行分析,明确其致病原因。方法应用全外显子组测序筛选与表型相关的基因变异,用Sanger测序在其家系成员中进行验证。结果先证者SKI基因(NM_003036)第1外显子存在c.94C>G(p.Leu32Val)杂合变异,其父母未携带相同变异。根据美国医学遗传学与基因组学学会指南,判断该变异为致病性(PS1+PS2+PM1+PM2+PP2+PP3)。结论SKI基因c.94C>G(p.Leu32Val)杂合变异可能是该患者的遗传学病因。Objective To explore the genetic basis for a proband with Shprintzen-Goldberg syndrome(SGS).Methods Whole exome sequencing was carried out to detect potential variants associated with the relevant phenotypes.Candidate variants were verified by Sanger sequencing of the patient and her family.Results DNA sequencing revealed that that the proband has carried a de novo heterozygous missense c.94C>G(p.Leu32Val)variant in exon 1 of the SKI gene(NM_003036),which has been reported previously.The same variant was not detected in either parent.Based on the guidelines of the American College of Medical Genetics and Genomics,the variant was predicted to be pathogenic(PS1+PS2+PM1+PM2+PP2+PP3).Conclusion The SKI c.94C>G(p.Leu32Val)variant probably underlay the autosomal dominant SGS in this patient.

关 键 词：Shprintzen-Goldberg综合征 SKI基因 杂合变异 常染色体显性遗传 

分 类 号：R725.9[医药卫生—儿科]