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

doi:10.1002/ajmg.a.32657

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 journal › Article › peer-review

31 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 language	English (US)
Pages (from-to)	431-436
Number of pages	6
Journal	American Journal of Medical Genetics, Part A
Volume	149
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.32657
State	Published - Mar 2009
Externally published	Yes

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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10.1002/ajmg.a.32657

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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.",

keywords = "Anosmia, Cafe-au-Lait spots, Central, Cochlear nerve, Congenital, Developmental delay, Hearing loss, Hypomyelination, Hypopigmentation, Nystagmus, SOX10, Waardenburg",

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AU - Mendoza-Londono, R.

AU - Blaser, S.

AU - Gillis, J.

AU - Dupuis, L.

AU - Levin, A. V.

AU - Chiang, P. W.

AU - Spector, E.

AU - Reardon, W.

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KW - Congenital

KW - Developmental delay

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KW - Nystagmus

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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