文献简介

出版社:Wiley Periodicals, Inc.

作  者:David Somsen,1 Laura Davis-Keppen,1 Patricia Crotwell, Jason Flanagan, Patrick Munson, and Quinn Stein

编  号:10.1002/ajmg.a.36415

关键字:congenital nasal pyriform aperture stenosis; cnpas; ocular albinism; GPR143; TBL1X, SHROOM2

年  份:2013   点击量:888

文献摘要

Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, both presented at birth with radiographically diagnosed CNPAS.Both siblings also were born with ocular albinism, which is known to have X-linked inheritance. Subsequent genetic testing demonstrated a 97 kb deletion in the p arm of the X chromosome in both siblings and their mother. This deletion encompasses a gene known to cause ocular albinism (GPR143), as well as partial deletion of two other genes, TBL1X and SHROOM2.

先天性鼻梨状孔狭窄(CNPAS)是由上颌骨过度生长而引起的一种罕见的先天性畸形。我们报道了两名患者,在出生时影像学诊断为CNPAS。这对兄弟在出生时还患有眼白化病,众所周知这是一种X-连锁遗传性疾病。随后,对兄妹和他们的母亲进行基因检测,证实在X染色体P臂上的97kb缺失。这种缺失包括引起眼皮肤白化病(GPR143)的基因,以及其它两种TBL1X和SHROOM2基因的部分缺失。