Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation

C. P. Barnett, R. Mendoza-Londono, S. Blaser, J. Gillis, L. Dupuis, A. V. Levin, P. W. Chiang, E. Spector, W. Reardon

Research output: Contribution to journalArticle

23 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)431-436
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number3
DOIs
StatePublished - Mar 1 2009

Keywords

  • Anosmia
  • Cafe-au-Lait spots
  • Central
  • Cochlear nerve
  • Congenital
  • Developmental delay
  • Hearing loss
  • Hypomyelination
  • Hypopigmentation
  • Nystagmus
  • SOX10
  • Waardenburg

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Barnett, C. P., Mendoza-Londono, R., Blaser, S., Gillis, J., Dupuis, L., Levin, A. V., Chiang, P. W., Spector, E., & Reardon, W. (2009). Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. American Journal of Medical Genetics, Part A, 149(3), 431-436. https://doi.org/10.1002/ajmg.a.32657