Vestibular and hearing loss in genetic and metabolic disorders.
Hearing loss affects about 4% of people under 45 years of age and comprises a broad spectrum of clinical presentations (congenital or late-onset, conductive or sensorineural, and syndromic or nonsyndromic). Approximately 30% of genetically determined deafness is reported to occur in syndromic form and 70% in nonsyndromic form. This review highlights recent advances in the molecular and genetic basis of hearing loss, which will help in understanding the biology of normal and abnormal hearing.
Gasparini
P
P
Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, Foggia, Italy. genetcss@fg.nettuno.it
Estivill
X
X
Fortina
P
P
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D017630:Connexins / Q000378:metabolism; D004252:DNA Mutational Analysis; D007758:Ear, Inner / Q000378:metabolism*; D006309:Hearing / Q000502:physiology*; D006314:Hearing Loss, Conductive / Q000235:genetics* / Q000378:metabolism*; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D020407:Internet; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors; D019076:Transgenes / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
D017630:Connexins; D014157:Transcription Factors