Hereditary Hearing Loss and Deafness Genes in Japan Hereditary Hearing Loss and Deafness Genes in Japan
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Hearing loss (HL) is the most common sensoryimpairment occurring at birth in developedcountries. Epidemiological data show that morethan one child in 1000 is born with HL, while morethan 50% of prelingual HL cases are found to behereditary. Approximately 70% of hereditary HL isnonsyndromic and subdivided to autosomaldominant (20%), autosomal recessive (75%),X-linked HL (1%), and maternally-inherited HLassociated with the mitochondrial DNA mutation.More than 10 deafness genes have been reportedto be responsible for nonsyndromic hereditary HLin Japan. Among them, the most prevalentcausative genes, GJB2 and the mitochondrial DNA12SrRNA are introduced. In addition, this studyalso refers to the specific genes responsible forthe unique audiogram, mainly WFS1 . Finally, thegenes related to the enlargement of vestibularaqueduct of inner ear abnormality, SLC26A4,EYA1 and SIX1 are discussed. The clinical andgenetic findings associated with these disordersincluding the results of a recent study arereviewed.
- Journal of Medical and Dental Sciences
Journal of Medical and Dental Sciences 57(1), 1-10, 2010
Tokyo Medical and Dental University