Tassabehji M, Newton V E, Read A P
Department of Medical Genetics, St. Mary's Hospital, Manchester, UK.
Nat Genet. 1994 Nov;8(3):251-5. doi: 10.1038/ng1194-251.
Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene. This encodes a putative basic-helix-loop-helix-leucine zipper transcription factor expressed in adult skin and in embryonic retina, otic vesicle and hair follicles. Mice carrying mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene.
2型瓦登伯革氏综合征（WS2）是一种以听力丧失和色素沉着紊乱为特征的常染色体显性遗传综合征。我们最近将一个WS2基因定位于3号染色体的p12.3 - p14.1区域，并提出小眼畸形相关转录因子（MITF）作为候选基因，它是小鼠小眼畸形（mi）基因的人类同源物。该基因编码一种假定的碱性螺旋-环-螺旋-亮氨酸拉链转录因子，在成人皮肤、胚胎视网膜、耳泡和毛囊中表达。携带mi突变的小鼠眼睛和皮毛色素沉着减少，某些等位基因还伴有小眼畸形、听力丧失、骨质石化和肥大细胞缺陷。在此我们表明，两个WS2家族中的患病个体在MITF基因中有影响剪接位点的突变。
