title: Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.
abstract: Waardenburg syndrome is characterized by hearing loss, pigmentation abnormalities, dysmorphologic features, and neurological phenotypes. Waardenburg syndrome consists of four distinct subtypes, and SOX10 mutations have been identified in type II and type IV. Type IV differs from type II owing to the presence of Hirschsprung disease. We identified a de novo nonsense mutation in SOX10 (p.G39X) in a female pediatric patient with Waardenburg syndrome with heterochromia iridis, profound bilateral sensorineural hearing loss, inner ear malformations, and overall hypopigmentation of the hair without dystopia canthorum. This patient has experienced chronic constipation since she was a neonate, but anorectal manometry showed a normal anorectal reflex. Chronic constipation in this patient was likely to be a consequence of a mild intestinal disorder owing to the SOX10 mutation, and this patient was considered to have a clinical phenotype intermediate between type II and type IV of the syndrome. Chronic constipation may be recognized as indicative of a SOX10 mutation in patients with Waardenburg syndrome.
authors.affiliation: Division of Otolaryngology, Chiba Children's Hospital, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Arimoto
authors.affiliation: Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, Japan.
authors.forename: Kazunori
authors.initials: K
authors.lastname: Namba
authors.affiliation: Division of Otolaryngology, Chiba Children's Hospital, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Nakano
authors.affiliation: Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, Japan. Electronic address: matsunagatatsuo@kankakuki.go.jp.
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Matsunaga
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D002908:Chronic Disease; D018389:Codon, Nonsense; D003248:Constipation / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D010375:Pedigree; D011859:Radiography; D055757:SOXE Transcription Factors / Q000235:genetics*; D013701:Temporal Bone / Q000000981:diagnostic imaging; D014849:Waardenburg Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors
keywords: Chronic constipation; Hirschsprung disease; Inner ear malformation; SOX10; Waardenburg syndrome