A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment

• Published in: The New England journal of medicine Vol. 346; no. 4; pp. 243 - 249
• Main Authors: del Castillo, Francisco J, del Castillo, Ignacio, Villamar, Manuela, Moreno-Pelayo, Miguel A, Álvarez, Araceli, Tellería, Dolores, Menéndez, Ibis, Moreno, Felipe
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 24.01.2002
• Subjects: Base Sequence; Biological and medical sciences; Blotting, Southern; chromosome 13; Chromosomes, Human, Pair 13; Connexin 26; Connexin 30; Connexins - genetics; DFNB1 gene; DNA Mutational Analysis; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Genes; Genes, Recessive; Genetics; Genotype; GJB2 gene; Hearing loss; Hearing Loss, Sensorineural - genetics; Humans; Medical sciences; Molecular Sequence Data; Mutation; Non tumoral diseases; Otorhinolaryngology. Stomatology; Polymerase Chain Reaction; Sequence Deletion; Cuba; Spain; Human; Connexin; Gene; Etiology; Auditory disorder; ENT disease; Mutation; Molecular biology; Genetic determinism; Genetic disease; Hearing loss

Up to half of patients with congenital autosomal recessive nonsyndromic deafness have mutations in the gene encoding the gap-junction protein connexin 26 ( GJB2 ); the rest have had no identifiable mutations. In this study, patients with this form of deafness who had one mutant GJB2 allele were foun...