Deafness, Nonsyndromic Sensorineural, Mitochondrial

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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

500008

Mode of Inheritance

Mitochondrial

Gene Map Locus

Mitochondrial

Description

Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
500008.1United Arab EmiratesMaleNoYes Profound hearing impairmentNC_012920.1:m.669T>CMitochondrialMohamed et al. 2020
500008.2United Arab EmiratesMaleYesYes Profound hearing impairmentNC_012920.1:m.827A>GMitochondrialMohamed et al. 2020 3 other affected sib...
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