Progress in understanding GJB2-linked deafness.
Mutations in the GJB2 gene (encoding for Connexin 26 protein) represent a leading cause of genetic hearing impairment. Extensive epidemiological and molecular studies have been reported, describing GJB2 mutations type, frequency and distribution. Moreover, several aspects of GJB2 mutations pathogenic effects have been elucidated taking advantage of in vitro and in vivo experimental approaches. Progress through reported studies is reviewed, highlighting recent major achievements in this field. Attention is focused on different unresolved questions regarding GJB2 deafness pathogenesis and genotype-phenotype relationships. Clarification of these important clues will significantly increase our understanding of the molecular basis of hearing loss and will improve the effectiveness of diagnosis and counselling of this frequent disease.
Gualandi
Francesca
F
Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Università di Ferrara, Ferrara, Italy.
Martini
Alessandro
A
Calzolari
Elisa
E
D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26