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Article

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Journal of medical genetics - 1 Jul 2006

Varga R, Avenarius M R, Kelley P M, Keats B J, Berlin C I, Hood L J, Morlet T G, Brashears S M, Starr A, Cohn E S, Smith R J H, Kimberling W J

Abstract excerpt

INTRODUCTION: The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene. METHODS: In total, 65 recessive non-syndromic hearing loss families were...

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Identifiers

PMID: 16371502
DOI: 10.1136/jmg.2005.038612
PMCID: PMC2593030

Genes

OTOF
GJB2

Variants

Provenance

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OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.PMID 16371502Read ↗

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The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.Semantic proximity Read ↗

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