一例鲁宾斯坦-泰比综合征患者的临床及基因分析并文献复习

doi:10.12114/j.issn.1007-9572.2022.0177

中国全科医学 ›› 2022, Vol. 25 ›› Issue (24): 3070-3074.DOI: 10.12114/j.issn.1007-9572.2022.0177

• 典型病例 • 上一篇

一例鲁宾斯坦-泰比综合征患者的临床及基因分析并文献复习

万孝苗¹^,², 黎玲¹, 刘昌伟¹, 申超辉¹, 吴利雯¹, 周素娴¹^,^*()

¹541001　广西桂林市，桂林医学院附属医院内分泌科
²541001　广西桂林市，桂林医学院临床医学院

收稿日期:2022-03-04 修回日期:2022-05-16 出版日期:2022-08-20 发布日期:2022-06-02
通讯作者: 周素娴
万孝苗，黎玲，刘昌伟，等.一例鲁宾斯坦-泰比综合征患者的临床及基因分析并文献复习[J].中国全科医学，2022，25（24）：3070-3074.[www.chinagp.net]
作者贡献：万孝苗负责文章构思与设计，撰写及修订论文，对文章整体负责；万孝苗、黎玲进行资料、文献的收集与整理；刘昌伟、申超辉、吴利雯参与论文的修订；周素娴负责文章的质量控制及审校。
基金资助:
国家自然科学基金资助项目(81860156); 广西自然科学基金面上项目(2019JJA140722); 桂林市科学研究与技术开发计划项目(20190218-5-12); 桂林市科学研究与技术开发计划项目(20190218-11-2)

Rubinstein-Taybi Syndrome: Clinical and Genetic Analyses of One Case and Literature Review

Xiaomiao WAN¹^,², Ling LI¹, Changwei LIU¹, Chaohui SHEN¹, Liwen WU¹, Suxian ZHOU¹^,^*()

¹Department of Endocrinology, Affiliated Hospital of Guilin Medical University, Guilin 541001, China
²Clinical Medical College of Guilin Medical University, Guilin 541001, China

Received:2022-03-04 Revised:2022-05-16 Published:2022-08-20 Online:2022-06-02
Contact: Suxian ZHOU
About author:
WAN X M, LI L, LIU C W, et al. Rubinstein-Taybi syndrome: clinical and genetic analyses of one case and literature review[J]. Chinese General Practice, 2022, 25 (24) : 3070-3074.

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摘要/Abstract

摘要： 鲁宾斯坦-泰比综合征（RSTS）是一种临床上罕见的常染色体显性遗传病，患者常表现出精神发育迟滞、宽拇指、钩形鼻等特征。RSTS可导致多器官发育不全，也可导致多系统（内分泌系统、消化系统、泌尿系统等）发育不全，甚至可累及皮肤（如毛母细胞瘤、多毛症等）。近年研究发现RSTS可增加患者患癌风险，但该病罕见，目前国内外相关报道较少，虽部分患者可通过临床特征及基因检测确诊，但仍有不少患者无法确诊，因此需进一步明确该病的病因和发病机制。本文报道了桂林医学院附属医院收治的1例疑似RSTS患者，通过对其进行临床特征分析和基因检测，发现患者有一个CREBBP基因突变：c.3832G>A（p.Glu1278Lys），未发现患者父母该基因突变，表明该基因突变为新发突变，患者诊断为RSTS明确。RSTS十分罕见，确诊困难，通过本例患者的报道，可以提供该病更多的临床特征，有助于对该病基因型-表型相关性的研究，能够给未来诊治RSTS提供更多参考。

关键词: 鲁宾斯坦-泰比综合征, 遗传学技术, DNA突变分析, 遗传关联研究, 全外显子组测序, 少见病, CREBBP基因

Abstract:

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant genetic disorder characterized by mental retardation, broad thumbs, and hooked nose and so on. RSTS can cause multiple organ hypoplasia and multiple system hypoplasia (such as endocrine system, digestive system, urinary system, etc.) , and even involve the skin (such as pilomatrixomas, hirsutism, etc.) . Moreover, it has been recently reported to be associated with increased risk of cancer. However, relevant research about RSTS is still very limited. By use of clinical characteristics and genetic testing, only some cases can be diagnosed, and the diagnosis for many other cases additionally requires an in-depth analysis of etiology and pathogenesis of RSTS. This paper reports a suspected RSTS patient treated in the Affiliated Hospital of Guilin Medical University. Whole exome sequencing showed that the patient has a mutation in the CREBBP gene: c.3832G>A (p.Glu1278Lys) , but her parents do not have, indicating that it is a new mutation. By the analysis of the genetic testing result with clinical characteristics, the patient was diagnosed with RSTS. It is very difficult to make a diagnosis of RSTS. By providing a detailed description of clinical features of RSTS, this report is conducive to the study of genotype-phenotype correlation of RSTS, and to clinical diagnosis and treatment of RSTS.

Key words: Rubinstein-Taybi syndrome, Genetic techniques, DNA mutational analysis, Genetic association studies, Whole exome sequencing, Rare diseases, CREBBP gene

万孝苗,黎玲,刘昌伟,等. 一例鲁宾斯坦-泰比综合征患者的临床及基因分析并文献复习[J]. 中国全科医学, 2022, 25(24): 3070-3074. DOI: 10.12114/j.issn.1007-9572.2022.0177.
Xiaomiao WAN,Ling LI,Changwei LIU, et al. Rubinstein-Taybi Syndrome: Clinical and Genetic Analyses of One Case and Literature Review[J]. Chinese General Practice, 2022, 25(24): 3070-3074. DOI: 10.12114/j.issn.1007-9572.2022.0177.

图/表 2

图1 患者面容及手足特征注：A可见患者粗眉，突出的喙鼻，鼻下小柱，上唇薄；B、C分别为右手和左手，可见大拇指宽大；D和E分别为左脚和右脚，可见大脚趾宽大

Figure 1 Facial，hands and feet features of a 16-year-old female with Rubinstein-Taybi syndrome

图2 全外显子基因测序结果注：A箭头示患者第16号染色体上CREBBP基因发生错义突变：c.3832G>A（p.Glu1278Lys）；B箭头示患者母亲相应位置未发生突变；C箭头示患者父亲相应位置未发生突变

Figure 2 Whole exome sequencing results of a 16-year-old female with Rubinstein-Taybi syndrome and her parents

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一例鲁宾斯坦-泰比综合征患者的临床及基因分析并文献复习

Rubinstein-Taybi Syndrome: Clinical and Genetic Analyses of One Case and Literature Review

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