由于SMC1L1基因突变导致的X连锁科妮莉亚·德朗热综合征

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

作者信息

Musio Antonio, Selicorni Angelo, Focarelli Maria Luisa, Gervasini Cristina, Milani Donatella, Russo Silvia, Vezzoni Paolo, Larizza Lidia

机构信息

Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy.

出版信息

Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9.

DOI:10.1038/ng1779

PMID:16604071

Abstract

Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation. Mutations in the NIPBL gene, a component of the cohesin complex, account for approximately half of the affected individuals. We report here that mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.

摘要

科妮莉亚·德朗热综合征是一种多系统发育障碍，其特征为面部畸形、上肢异常、生长发育迟缓及认知障碍。黏连蛋白复合体的一个组成部分NIPBL基因突变导致了约半数患者发病。我们在此报告，编码黏连蛋白复合体另一个亚基的SMC1L1（也称为SMC1）基因突变，是一个患病家族的三名男性成员及一例散发病例患科妮莉亚·德朗热综合征的病因。