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 journalArticlepeer-review

30 Scopus citations


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
Issue number3
StatePublished - Mar 2009
Externally publishedYes


  • 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)


Dive into the research topics of 'Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation'. Together they form a unique fingerprint.

Cite this