title: Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
abstract: A 17-month-old boy was referred with profound sensorineural hearing loss (SNHL), severe visual impairment and developmental delay. Neuroimaging identified hypomyelination and cochlear nerve aplasia. He was noted to have fair skin and hair and multiple areas of cutaneous hyperpigmentation. Previous investigations including karyotype, array comparative genomic hybridization (aCGH) and a full metabolic screen were normal. A novel missense mutation of the highly conserved high mobility group (HMG) domain of SOX10 was identified (Q174P:c.521A>C). This case represents the first description of aplasia of the cochlear nerve due to a SOX10 mutation.
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: C P
authors.initials: CP
authors.lastname: Barnett
authors.forename: R
authors.initials: R
authors.lastname: Mendoza-Londono
authors.forename: S
authors.initials: S
authors.lastname: Blaser
authors.forename: J
authors.initials: J
authors.lastname: Gillis
authors.forename: L
authors.initials: L
authors.lastname: Dupuis
authors.forename: A V
authors.initials: AV
authors.lastname: Levin
authors.forename: P W
authors.initials: PW
authors.lastname: Chiang
authors.forename: E
authors.initials: E
authors.lastname: Spector
authors.forename: W
authors.initials: W
authors.lastname: Reardon
mesh_terms: D000015:Abnormalities, Multiple; D003056:Cochlear Nerve / Q000000981:diagnostic imaging / Q000473:pathology*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D009830:Olfactory Bulb / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D055757:SOXE Transcription Factors / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D055757:SOXE Transcription Factors