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。
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.
作者
万孝苗
黎玲
刘昌伟
申超辉
吴利雯
周素娴
WAN Xiaomiao;LI Ling;LIU Changwei;SHEN Chaohui;WU Liwen;ZHOU Suxian(Department of Endocrinology,Affiliated Hospital of Guilin Medical University,Guilin 541001,China;Clinical Medical College of Guilin Medical University,Guilin 541001,China)
出处
《中国全科医学》
CAS
北大核心
2022年第24期3070-3074,共5页
Chinese General Practice
基金
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)。
