A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1.

ABSTRACT: Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism.

SUBMITTER: Yoshida Y 

PROVIDER: S-EPMC4775770 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature