Roberts综合征研究进展

Roberts syndrome

Roberts综合征（Roberts syndrome，RBS）是罕见的常染色体隐性遗传病，由于编码乙酰转移酶（establishment of cohesion 1 homolog 2，ESC02）的基因突变，引起染色单体聚合失败而导致的一组综合征。患者常有生长迟缓、四肢骨缺损、颅颌面畸形等。近年来，对RBS的临床表现及致病机制有更深地了解，对其治疗也有了较大的进展，细胞染色体核型及基因型分析使产前诊断更为准确。对该综合征的临床表现、分子遗传学、致病机制，以及预防方面进行系统综述，旨在强化认知、提高产前筛查率、降低患儿出生率、增加临床干预、改善疾病预后。

Roberts syndrome （RBS, OMIM 268300） is a rare autosomal recessive disease, characterized by retardation before and after birth, cranial and maxillofaeial deformities, limb anomalies and mental retardation, etc. Mutations in the establishment of cohesion 1 homolog 2 （ESCO2） gene on the chromosome of 8p21.1 have been found to be causative for RBS. Here we systematically review this rare disease and summarize the pathogenic mechanisms and process in its treatment.