Deafness, Autosomal Recessive 9

Alternative Names

  • DFNB9
  • Neurosensory Nonsyndromic Recessive Deafness 9
  • NSRD9
  • Auditory Neuropathy, Autosomal Recessive 1
  • AUNB1
  • Auditory Neuropathy, Nonsyndromic Recessive
  • NSRAN
  • Auditory Neuropathy, Nonsyndromic Recessive, Temperature-Sensitive

Associated Genes

Otoferlin
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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

601071

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p23-p22

Description

Non-syndromal sensorineural hearing impairment in humans is genetically heterogeneous showing autosomal recessive, autosomal dominant, X-linked or mitochondrial modes of transmission. DFNB9 is caused by mutations in the OTOF gene. 

 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
601071.1.1LebanonMaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999
601071.1.2LebanonFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1....
601071.1.3LebanonFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1....
601071.1.4LebanonFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1....
601071.1.5LebanonFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999 Second cousin of 601...
601071.1.6LebanonFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999 First cousin of 6010...
601071.1.7LebanonMaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1....
601071.1.8LebanonFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999 First cousin of 6010...
601071.1.9LebanonFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1....
601071.1.10LebanonMaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveChaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1....
601071.2.1LebanonFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveYasunaga et al. 1999
601071.2.2LebanonMaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveYasunaga et al. 1999 Sibling of 601071.2....
601071.2.3LebanonMaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveYasunaga et al. 1999 Sibling of 601071.2....
601071.3.1PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4157C>THomozygousShahin et al. 2010
601071.3.2PalestineFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4157C>THomozygousShahin et al. 2010 Sibling of 601071.3....
601071.3.3PalestineFemaleYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4157C>THomozygousShahin et al. 2010 Sibling of 601071.3....
601071.5LebanonUnknownYes Hearing impairmentNM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveJalkh et al. 2019
601071.G.1LebanonYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.4491T>AHomozygousAutosomal, RecessiveYasunaga et al. 1999 8 patients from 2 un...
601071.G.3United Arab EmiratesUnknownYesYes Prelingual sensorineural hearing impairm...NM_194248.2:c.709C>THomozygousAutosomal, RecessiveHouseman et al. 2001 Family of five affec...
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