Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
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DOI：
10.1186/s13052-015-0110-1
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发表时间：
2015-01-20
影响因子：
3.6
通讯作者：
Esposito S
中科院分区：
文献类型：
--
作者：
Milani D;Manzoni FM;Pezzani L;Ajmone P;Gervasini C;Menni F;Esposito S
鲁宾斯坦-泰比综合征（RSTS）是一种极其罕见的常染色体显性遗传疾病，估计每125,000例活产婴儿中就有一例。RSTS的特点是典型的面部特征，小头畸形，宽拇指和第一脚趾，智力残疾和出生后生长迟缓。然而，RSTS没有标准的诊断标准。在这篇综述中，我们总结了RSTS的临床特征和遗传基础，并强调了未来研究的领域，以确定合适的RSTS诊断方案和随访护理。RSTS的主要特征是身高和体重发育迟缓，小头畸形，面部畸形，拇指和大脚趾宽。超过90%的残障RSTS患者能活到成年，但这些患者的医疗保健特别复杂、耗时且昂贵。此外，没有标准的诊断标准和后续护理指南可用于RSTS。研究表明，编码环状amp调节增强子结合蛋白（CREBBP）和e1a结合蛋白p300 （EP300）的基因突变有助于RSTS的发展。因此，基因检测对RSTS的诊断是有用的，尽管目前大多数RSTS病例是根据临床特征诊断的。RSTS的临床特征已被广泛研究，这对这种极其罕见的综合征的诊断有重要意义。然而，RSTS的发病机制和基因型-表型关联在很大程度上是未知的。因此，为了更好地了解该病，建立标准的诊断标准，提供专业的RSTS管理和随访护理，需要多中心研究和国际合作。
Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS. RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features. The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
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DOI：
10.1111/j.1468-3083.2004.00991.x
发表时间：
2004-09-01
影响因子：
9.2
作者：
Bayle, P;Bazex, J;Albes, B
通讯作者：
Albes, B
影响因子：
4
作者：
Bartholdi, Deborah;Roelfsema, Jeroen H.;Peters, Dorien J. M.
通讯作者：
Peters, Dorien J. M.
影响因子：
2
作者：
Bartsch, Oliver;Labonte, Janette;Haaf, Thomas
通讯作者：
Haaf, Thomas
影响因子：
5.3
作者：
Bartsch, O;Schmidt, S;Rasi, S
通讯作者：
Rasi, S
DOI：
10.1002/ajmg.10617
发表时间：
2002-09-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Hanauer, D;Argilla, M;Wallerstein, R
通讯作者：
Wallerstein, R