Rothmund-Thomson综合征一例基因检测分析  

Gene detection of Rothmund-Thomson syndrome

作　　者：邸文柯 赵晴 王真真[1] 付希安[1] 孙乐乐[1] 于功奇[1] 刘红[1] 张福仁[1] DI Wenke;ZHAO Qing;WANG Zhenzhen;FU Xi an;SUN Lele;YU Gongqi;LIU Hong;ZHANG Furen(Shandong Provincial Hospital for Skin Diseases&Shandong Provincial Institute of Dermatology and Venereology,Shandong First Medical University&Shandong Academy of Medical Sciences,Jinan 250022,China)

机构地区：[1]山东第一医科大学附属皮肤病医院(山东省皮肤病医院),山东省皮肤病性病防治研究所,济南250022

出　　处：《中国麻风皮肤病杂志》2022年第6期365-368,共4页China Journal of Leprosy and Skin Diseases

基　　金：山东省重点研发计划(重大科技创新工程)项目(编号:2021LCZX07);山东第一医科大学学术提升计划(编号:2019LJ002)。

摘　　要：目的:对一例自幼身材矮小、发育迟缓、周身皮肤异色症的患儿进行基因检测,以明确诊断确定病因。方法:收集患儿临床资料,提取患儿及其父母外周血DNA,采用全外显子组测序检测潜在的基因突变,并通过Sanger测序进行验证。结果:该患儿在RECQL4基因上携带两个复合杂合突变:(c.1579dupA)(p.T527fs)和(c.2290 C>T)(p. Q764X),其中,突变c.1579dupA既往未被报道。结论:结合患儿临床表现及全外显子组测序结果,诊断为Rothmund-Thomson综合征,致病基因为RECQL4,且该研究发现新突变c.1579dupA,进一步丰富了疾病基因库。Objective: To detect the mutation for a child presented with short stature, developmental retardation, and poikiloderma to confirm diagnosis and pathogenesis. Methods: Clinical data and the peripheral blood of the proband and her parents were collected and genome DNA was extracted. Whole exome sequencing as well as Sanger sequencing were performed. Results: The compound heterozygous variants of the RECQL4 gene was found in the proband. One was c.1579 dupA, caused frameshift mutation. Another was c.2290 C>T, which led to nonsense mutation. The mutation c.1579 dupA was unreported previously. Conclusion: The patient was diagnosed with Ruthmund-Thomson syndrome based on clinical manifestations and the result of whole exome sequencing. The compound heterozygous variants of the RECQL4 gene probably accounted for the Ruthmund-Thomson syndrome in this patient. The c.1579 dupA is a novel mutation which enriched the mutational spectrum of the RECQL4 gene.

关 键 词：ROTHMUND-THOMSON综合征 RECQL4基因 全外显子组测序 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]