| Rothmund-Thomson综合征一例基因检测分析 |
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| 引用本文： | 邸文柯,赵晴,王真真,付希安,孙乐乐,于功奇,刘红,张福仁. Rothmund-Thomson综合征一例基因检测分析[J]. 中国麻风皮肤病杂志, 2022, 38(6): 365-368. DOI: 10.12144/zgmfskin202206365 |
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| 作者姓名： | 邸文柯 赵晴 王真真 付希安 孙乐乐 于功奇 刘红 张福仁 |
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| 作者单位： | 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 |
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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....
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| 关 键 词： | Rothmund-Thomson综合征 RECQL4基因 全外显子组测序 |
Gene detection of Rothmund-Thomson syndrome |
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| DI Wenke,ZHAO Qing,WANG Zhenzhen,FU Xi'an,SUN Lele,YU Gongqi,LIU Hong,ZHANG Furen. Gene detection of Rothmund-Thomson syndrome[J]. China Journal of Leprosy and Skin Diseases, 2022, 38(6): 365-368. DOI: 10.12144/zgmfskin202206365 |
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| Authors: | DI Wenke ZHAO Qing WANG Zhenzhen FU Xi'an SUN Lele YU Gongqi LIU Hong ZHANG Furen |
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| Affiliation: | 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 |
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| 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. |
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| Keywords: | Rothmund-Thomson syndrome RECQL4 gene whole exome sequencing |
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