文献简介

出版社:Wiley Online Library

作  者:Dimitre R. Simeonov,1 Xinjing Wang

编  号:10.1002/humu.22315

关键字:albinism; OCA; TYR; OCA2; TYRP1; SLC45A2; TYRP2; SLC24A5

年  份:2013   点击量:849

文献摘要

ABSTRACT:

摘要:

Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations in the OCA genes;In addition to discussing the clinical and molecular features of OCA, we address the cases of apparent missing heritability. In our cohort, 26% of patients did not have two mutations in a single OCA gene. We demonstrate the utility of multiple detection methods to reveal mutations missed by Sanger sequencing. Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation.

眼皮肤白化病(OCA)是黑色素合成的一种罕见的遗传性疾病,会引发头发、皮肤和眼睛等处的色素减退。由于基因突变引起四种类型的OCA: TYR(OCA-1),OCA2(OCA-2),TYRP1(OCA-3),或SLC45A2(OCA-4)。这里,我们报道了OCA基因中的22种新的突变;此外,除了讨论OCA的临床和分子特征,我们处理表观遗传缺失的病例。在我们的研究中,26%的患者在单独的OCA基因中,并没有两种突变。我们通过Sanger测序证明了多种有效的检测方法,揭示基因的突变。最后,我们回顾了TYR p.R402Q温度敏感变异和确认其与只有一个可识别的TYR基因突变的白化病病例的关联。