Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Alternative Names

  • EVA
  • Deafness, Autosomal Recessive 4
  • DFNB4
  • Neurosensory Nonsyndromic Recessive Deafness 4
  • NSRD4
  • Dilated Vestibular Aqueduct
  • DVA
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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

600791

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q23.2,5q35.1,7q22.3

Description

Enlarged vestibular aqueduct (EVA), also known as DFNB4, is the most common form of inner ear abnormality resolved by computed tomography. It is characterized by stepwise progressive sensorineural hearing loss associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct (dilated vestibular aqueduct, DVA) to Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2(1/2) turns is replaced by a hypoplastic coil of 1(1/2) turns. Thyroid defects are not seen in EVA.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
600791.1.1PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_000441.1:c.1341+1delHomozygousAutosomal, RecessiveShahin et al. 2010
600791.1.2PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_000441.1:c.1341+1delHomozygousAutosomal, RecessiveShahin et al. 2010 Brother of 600791.1....
600791.1.3PalestineFemaleYes Prelingual sensorineural hearing impairm...NM_000441.1:c.1341+1delHomozygousAutosomal, RecessiveShahin et al. 2010 Paternal aunt of 600...
600791.2.1United Arab EmiratesFemaleYesYes Severe hearing impairmentNM_000441.2:c.716T>AHomozygousAutosomal, RecessiveChouchen et al. 2021 Proband
600791.2.2United Arab EmiratesFemaleYesYes Severe hearing impairmentNM_000441.2:c.716T>AHomozygousAutosomal, RecessiveChouchen et al. 2021 Sibling of proband
600791.2.3United Arab EmiratesMaleYesYes Severe hearing impairmentNM_000441.2:c.716T>AHomozygousAutosomal, RecessiveChouchen et al. 2021 Sibling of proband
600791.2.4United Arab EmiratesMaleYesYes Severe hearing impairmentNM_000441.2:c.716T>AHomozygousAutosomal, RecessiveChouchen et al. 2021 Sibling of proband
600791.3United Arab EmiratesUnknown Congenital sensorineural hearing impairm...NM_000441.2:c.1211C>T, NM_000441.2:c.2174_2177dupCompound heterozygousAutosomal, RecessiveElsayed O and Al-Shamsi A. 2022 Subject with compoun...
600791.4United Arab EmiratesUnknown Congenital sensorineural hearing impairm...NM_000441.2:c.1150G>CHomozygousAutosomal, RecessiveElsayed O and Al-Shamsi A. 2022

Other Reports

Lebanon

Saliba et al. (2000) described the case of a 40-year-old woman admitted for severe purulent meningitis and sub-coma secondary to a left mastoiditis with mixed hearing loss on the left side and complete deafness on the right side

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