Deafness, Autosomal Recessive 59

Alternative Names

  • DFNB59

Associated Genes

Pejvakin
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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

610220

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q31.2

Description

Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans. It is estimated that globally 1:1000 children born have profound hearing loss. Non-syndromic SNHL accounts for approximately 70% of hereditary hearing loss. In addition, 80% of the non-syndromic SNHL cases have an autosomal recessive mode of inheritance (ARNSHL), also known as DFNB. To date, few dozens of genes and gene loci have been implicated in DFNB.

DFNB59 has been described in families in which affected individuals presented with either auditory neuropathy or hearing loss of cochlear origin. Auditory neuropathy is a type of sensorineural hearing impairment in which the auditory brainstem response (ABR) is absent or severely distorted while otoacoustic emissions (OAEs), which are low level sounds originating in the cochlea due to the mechanical activity of outer hair cells, are preserved. This suggests a primary lesion located in the inner hair cells, in the auditory nerve, or in the intervening synapse, but may also include damage to neuronal populations in the auditory pathway.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610220.1MoroccoMaleYesYes Profound hearing impairmentNM_001042702.5:c.113dupHomozygousAutosomal, RecessiveEbermann et al. 2007 Brother of 613862.3....
610220.2.1PalestineFemaleYesYes Bilateral sensorineural hearing impairme...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveBorck et al. 2012 The families of 6102...
610220.2.2PalestineFemaleYesYes Bilateral sensorineural hearing impairme...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveBorck et al. 2012 Sister of 610220.2.1
610220.3.1PalestineMaleYesYes Bilateral sensorineural hearing impairme...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveBorck et al. 2012 The families of 6102...
610220.4.1PalestineFemaleYesYes Bilateral sensorineural hearing impairme...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveBorck et al. 2012 The families of 6102...
610220.4.2PalestineFemaleYesYes Bilateral sensorineural hearing impairme...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveBorck et al. 2012 Sister of 610220.4.1
610220.4.3PalestineFemaleYesYes Bilateral sensorineural hearing impairme...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveBorck et al. 2012 Sister of 610220.4.1
610220.4.4PalestineMaleYesYes Bilateral sensorineural hearing impairme...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveBorck et al. 2012 Brother of 610220.4....
610220.4.5PalestineMaleYesYes Bilateral sensorineural hearing impairme...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveBorck et al. 2012 Brother of 610220.4....
610220.5.1PalestineFemaleYesYes Prelingual sensorineural hearing impairm...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveShahin et al. 2010
610220.5.2PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveShahin et al. 2010 Brother of 610220.5....
610220.5.3PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveShahin et al. 2010 First cousin of 6102...
610220.5.4PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_001042702.5:c.406C>THomozygousAutosomal, RecessiveShahin et al. 2010 First cousin of 6102...
613862.3.1MoroccoMaleYesYes Progressive visual loss; Cone/cone-rod...NM_001042702.5:c.113dupHomozygousAutosomal, RecessiveEbermann et al. 2007 Index patient (ident...
613862.3.2MoroccoMaleYesYes Progressive visual loss; Cone/cone-rod...NM_001042702.5:c.113dupHomozygousAutosomal, RecessiveEbermann et al. 2007 Brother of 613862.3....
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