中国麻风皮肤病杂志 ›› 2022, Vol. 38 ›› Issue (6): 365-368.doi: 10.12144/zgmfskin202206365

• 论著 • 上一篇    下一篇

Rothmund-Thomson综合征一例基因检测分析

邸文柯,赵晴,王真真,付希安,孙乐乐,于功奇,刘红,张福仁   

  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
  • 出版日期:2022-06-15 发布日期:2022-04-14
  • 通讯作者: 张福仁，E-mail: zhangfuren@hotmail.com

Gene detection of Rothmund-Thomson syndrome

DI Wenke, ZHAO Qing, WANG Zhenzhen, FU Xi'an, SUN Lele, YU Gongqi, LIU Hong, ZHANG Furen   

  1. 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
  • Online:2022-06-15 Published:2022-04-14
  • Contact: Zhang Furen, E-mail: zhangfuren@hotmail.com

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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。

关键词: Rothmund-Thomson综合征, RECQL4基因, 全外显子组测序

Abstract: 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.1579dupA, caused frameshift mutation. Another was c.2290 C＞T, which led to nonsense mutation. The mutation c.1579dupA 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.1579dupA is a novel mutation which enriched the mutational spectrum of the RECQL4 gene.

Key words: Rothmund-Thomson syndrome, RECQL4 gene, whole exome sequencing