Karaman Ali, Aliagaoglu Cihangir
Department of Genetics, State Hospital, Erzurum, Turkey.
Dermatol Online J. 2006 Mar 30;12(3):21.
Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. Depending on additional symptoms, WS is classified into four types, WS1, WS2, WS3 and WS4. WS1 and WS3 are attributed to mutations in PAX3, whereas WS2 is heterogeneous, being caused by mutations in the microphthalmia-associated transcription factor gene in some but not all affected families. WS4 is attributed to mutations in the endothelin-3 or the endothelin-B receptor genes and SOX10 gene. WS1 is an auditory-pigmentary disorder comprising sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum. We report a case with a confirmed diagnosis of WS1 and review the relevant literature for this rare disorder.
瓦登伯革氏综合征（WS）是一种罕见疾病，其特征为感音神经性耳聋，伴有色素异常以及神经嵴衍生组织的缺陷。根据其他症状，WS可分为四种类型，即WS1、WS2、WS3和WS4。WS1和WS3归因于PAX3基因突变，而WS2具有异质性，在部分但并非所有受影响的家族中是由小眼相关转录因子基因突变引起的。WS4归因于内皮素-3或内皮素-B受体基因以及SOX10基因的突变。WS1是一种听觉色素性疾病，包括感音神经性听力损失、虹膜、毛发和皮肤的色素紊乱，以及内眦移位。我们报告一例确诊为WS1的病例，并回顾有关这种罕见疾病的相关文献。
