SOX10 mutation in Waardenburg syndrome type II.

摘要

Waardenburg syndrome (WS) is a congenital developmental disorder characterized by sensori-neural hearing loss and abnormal pigmentation of the eye, hair, and skin [Jones, 2006]. This condition is divided into four types [reviewed in Jones, 2006; Bondurand et al., 2007]. Type I WS (WS1) consists of dystopia canthorum and broad nasal root, and is almost exclusively caused by heterozygous mutations of PAX3. Type II WS (WS2) lacks the dystopia canthorum and results from heterozygous mutations of MITF (WS2A) in approx15% of patients and homozy-gous deletions of SNAI2 (WS2D) in two patients. Type III WS (WS3) (Klein-Waardenburg syndrome), a severe form of WS1, is associated with upper limb defects, and is ascribed to heterozygous or homo-zygous mutations of PAX3. Type IV WS (WS4) (Shah-Waardenburg syndrome) is characterized by Hirschsprung disease, and is caused by heterozygous or homozygous mutations of EDNRB or its ligand EDN3, or by heterozygous mutations of SOX10.