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, Pei-Wen Chiang, E. Spector, W. Reardon

Research output: Contribution to journalArticle

21 Citations (Scopus)

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 2009
Externally publishedYes

Fingerprint

Cochlear Nerve
Olfactory Bulb
Skin
Hyperpigmentation
Mutation
Comparative Genomic Hybridization
Sensorineural Hearing Loss
Vision Disorders
Missense Mutation
Karyotype
Neuroimaging
Hair

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Barnett, C. P., Mendoza-Londono, R., Blaser, S., Gillis, J., Dupuis, L., Levin, A. V., ... 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

Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. / Barnett, C. P.; Mendoza-Londono, R.; Blaser, S.; Gillis, J.; Dupuis, L.; Levin, A. V.; Chiang, Pei-Wen; Spector, E.; Reardon, W.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 3, 03.2009, p. 431-436.

Research output: Contribution to journalArticle

Barnett, CP, Mendoza-Londono, R, Blaser, S, Gillis, J, Dupuis, L, Levin, AV, 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, vol. 149, no. 3, pp. 431-436. https://doi.org/10.1002/ajmg.a.32657
Barnett, C. P. ; Mendoza-Londono, R. ; Blaser, S. ; Gillis, J. ; Dupuis, L. ; Levin, A. V. ; Chiang, Pei-Wen ; Spector, E. ; Reardon, W. / Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 3. pp. 431-436.
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