奥皮茨G/BBB综合征是一种中线发育缺陷疾病，由位于Xp22的一个新的环状指基因发生突变所致。

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

作者信息

Quaderi N A, Schweiger S, Gaudenz K, Franco B, Rugarli E I, Berger W, Feldman G J, Volta M, Andolfi G, Gilgenkrantz S, Marion R W, Hennekam R C, Opitz J M, Muenke M, Ropers H H, Ballabio A

机构信息

Telethon Institute of Genetics and Medicine (TIGEM), Milan, Italy.

出版信息

Nat Genet. 1997 Nov;17(3):285-91. doi: 10.1038/ng1197-285.

DOI:10.1038/ng1197-285

PMID:9354791

Abstract

Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have identified a new gene on Xp22, MID1 (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families. MID1 encodes a member of the B-box family of proteins, which contain protein-protein interaction domains, including a RING finger, and are implicated in fundamental processes such as body axis patterning and control of cell proliferation. The association of MID1 with OS suggests an important role for this gene in midline development.

摘要

奥匹兹综合征（OS）是一种遗传性疾病，其特征为中线缺陷，包括眼距过宽、尿道下裂、唇腭裂、喉气管裂和肛门闭锁。我们在Xp22上鉴定出一个新基因MID1（中线1），在一名携带X染色体倒位的OS患者中该基因被破坏，并且在几个OS家族中也发生了突变。MID1编码B-box蛋白家族的一个成员，该家族蛋白包含蛋白质-蛋白质相互作用结构域，包括一个环指结构域，并且参与诸如体轴模式形成和细胞增殖控制等基本过程。MID1与OS的关联表明该基因在中线发育中起重要作用。