title: An overview of hereditary hearing loss.
abstract: Understanding the genetic basis of hearing loss is important because almost 50% of profound hearing loss are caused by genetic factors and more than 120 independent genes have been identified. In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), classification of genetic hearing loss (syndromic versus nonsyndromic, and recessive dominant, X-linked and mitochondrial) was performed. Some of the most common syndromes (Usher, Pendred, Jervell and Lange-Nielsen, Waardenburg, branchio-oto-renal, Stickler, Treacher Collins and Alport syndromes, biotinidase deficiency and Norrie disease) causing genetic hearing loss were also explained briefly. The genes involved in hearing loss and genetic heterogeneity were presented.
authors.affiliation: Department of Otolaryngology, Faculty of Medicine, Gazi University, Ankara, Turkey. bayazity@yahoo.com
authors.forename: Yildirim A
authors.initials: YA
authors.lastname: Bayazit
authors.forename: Metin
authors.initials: M
authors.lastname: Yilmaz
mesh_terms: D000483:Alleles; D004272:DNA, Mitochondrial / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D034381:Hearing Loss / Q000145:classification / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns; D010641:Phenotype; D011110:Polymorphism, Genetic; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial