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

Authors


  • How to cite this article: Barnett CP, Mendoza-Londono R, Blaser S, Gillis J, Dupuis L, Levin AV, Chiang PW, Spector E, Reardon W. 2009. Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. Am J Med Genet Part A 149A:431–436.

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. © 2009 Wiley-Liss, Inc.

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