deafnesses
deafness
Types
DFNAs (deafness, autosomal dominant nonsyndromic sensorineural types)
Etiology
myosin-associated deafness
cadherin-associated deafness
connexin-associated deafness (connexinopathies)
CRYM mutations (12471561)
TMIE mutations (transmembrane inner ear expressed gene) (12145746)
EYA4 mutations (autosomal dominant nonsyndromic sensorineural deafness) (MIM.601316)
References
Petit C. From deafness genes to hearing mechanisms: harmony and counterpoint. Trends Mol Med. 2006 Feb;12(2):57-64. PMID: 16406841
Ben-Yosef T, Friedman TB. The genetic bases for syndromic and nonsyndromic deafness among Jews. Trends Mol Med. 2003 Nov;9(11):496-502. PMID: 14604828
Ahituv N, Avraham KB. Mouse models for human deafness: current tools for new fashions. Trends Mol Med. 2002 Sep;8(9):447-51. PMID: 12223317
Morton CC. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet. 2002 May 15;11(10):1229-40. PMID: 12015283
Rabionet R, Lopez-Bigas N, Arbones ML, Estivill X. Connexin mutations in hearing loss, dermatological and neurological disorders. Trends Mol Med. 2002 May;8(5):205-12. PMID: 12067629
Steel KP, Bussoli TJ. Deafness genes: expressions of surprise. Trends Genet. 1999 Jun;15(6):207-11. PMID: 10354578
Kalatzis V, Petit C. The fundamental and medical impacts of recent progress in research on hereditary hearing loss. Hum Mol Genet. 1998;7(10):1589-97. PMID: 9735380