title: 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.
authors.affiliation: Division of Oral and Maxillofacial Biopathological Surgery, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine , Yonago, Japan.
authors.forename: Yu
authors.initials: Y
authors.lastname: Yoshida
authors.affiliation: Division of Oral and Maxillofacial Biopathological Surgery, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine , Yonago, Japan.
authors.forename: Rieko
authors.initials: R
authors.lastname: Doi
authors.affiliation: Division of Functional Genomics, Research Center for Bioscience and Technolog y, Tottori University , Yonago, Japan.
authors.forename: Kaori
authors.initials: K
authors.lastname: Adachi
authors.affiliation: Division of Functional Genomics, Research Center for Bioscience and Technolog y, Tottori University , Yonago, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.affiliation: Division of Oral and Maxillofacial Biopathological Surgery, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine , Yonago, Japan.
authors.forename: Isamu
authors.initials: I
authors.lastname: Kodani
authors.affiliation: Division of Oral and Maxillofacial Biopathological Surgery, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine , Yonago, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Ryoke