Non-syndromic autosomal-dominant deafness.
Non-syndromic deafness is a paradigm of genetic heterogeneity. More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non-syndromic deafness have been identified. Autosomal-dominant genes are responsible for about 20% of the cases of hereditary non-syndromic deafness, with 16 different genes identified to date. In the present article we review these 16 genes, their function and their contribution to deafness in different populations. The complexity is underlined by the fact that several of the genes are involved in both dominant and recessive non-syndromic deafness or in both non-syndromic and syndromic deafness. Mutations in eight of the genes have so far been detected in only single dominant deafness families, and their contribution to deafness on a population base might therefore be limited, or is currently unknown. Identification of all genes involved in hereditary hearing loss will help in the understanding of the basic mechanisms underlying normal hearing, will facilitate early diagnosis and intervention and might offer opportunities for rational therapy.
Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, GR-11527 Athens, Greece. inchildh@otenet.gr
M B
MB
Petersen
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins / Q000235:genetics; D024161:Collagen Type XI / Q000235:genetics; D017630:Connexins / Q000235:genetics; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D016326:Extracellular Matrix Proteins / Q000235:genetics; D000080865:Formins; D058851:GPI-Linked Proteins; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D051656:KCNQ Potassium Channels; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009218:Myosins / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated; D011960:Receptors, Estrogen; D015534:Trans-Activators / Q000235:genetics; D050821:Transcription Factor Brn-3C; D014157:Transcription Factors / Q000235:genetics; D000094524:Gasdermins
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D024161:Collagen Type XI; D017630:Connexins; D016326:Extracellular Matrix Proteins; D000080865:Formins; D058851:GPI-Linked Proteins; D018398:Homeodomain Proteins; D051656:KCNQ Potassium Channels; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009218:Myosins; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D011960:Receptors, Estrogen; D015534:Trans-Activators; D050821:Transcription Factor Brn-3C; D014157:Transcription Factors; C108962:DIAPH1 protein, human; C117736:EYA4 protein, human; C111432:GSDME protein, human; D000094524:Gasdermins; C491747:Gsdme protein, mouse; C117367:KCNQ4 protein, human; C492167:Kcnq4 protein, mouse; C111223:POU4F3 protein, human; C491350:TECTA protein, human; C451751:TMC1 protein, human; C114987:wolframin protein