一个表现为2型瓦登伯革氏综合征的家族中的一种PAX3基因多态性（T315K）
A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.
作者信息
Wang C, Kim E, Attaie A, Smith T N, Wilcox E R, Lalwani A K
机构信息
Laboratory of Molecular Otology, Epstein Laboratories, Department of Otolaryngology - Head & Neck Surgery, University of California San Francisco, CA, USA.
出版信息
Mol Cell Probes. 1998 Feb;12(1):55-7. doi: 10.1006/mcpr.1997.0149.
Waardenburg Syndrome (WS) is an autosomal-dominant disorder phenotypically characterized by sensorineural hearing loss and pigmentary disturbances. Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. Here a neutral polymorphism is reported in the PAX3 gene (T315K) in a family with WS2.
瓦登伯革氏综合征（WS）是一种常染色体显性疾病，其表型特征为感音神经性听力损失和色素沉着紊乱。内眦异位的存在提示1型WS，是由PAX3基因缺陷引起的，而内眦位置正常是2型WS（WS2）的特征，与小眼相关转录因子（MIFT）基因缺陷有关。本文报道了一个患有WS2的家族中PAX3基因（T315K）的中性多态性。
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