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Human Molecular Genetics, 2001, Vol. 10, No. 9 947-952
© 2001 Oxford University Press

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

Núria López-Bigas1, Montserrat Olivé2, Raquel Rabionet1, Orit Ben-David3, Juan Antonio Martínez-Matos2, Olga Bravo4, Isabel Banchs1, Victor Volpini1, Paolo Gasparini5, Karen B. Avraham3, Isidre Ferrer6, Maria Lourdes Arbonés1 and Xavier Estivill1,+

1Medical and Molecular Genetics Center, Hospital Duran i Reynals, L’Hospitalet, 08907 Barcelona, Catalonia, Spain, 2Neuromuscular Unit, Department of Neurology, Hospital Princeps d’Espanya, L’Hospitalet, Barcelona, Catalonia, Spain, 3Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Israel, 4Otolaringology Unit, Hospital Princeps d’Espanya, L’Hospitalet, Barcelona, Catalonia, Spain, 5Servizio di Genetica Medica, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy and 6Neuropathology Unit, Hospital Princeps d’Espanya, L’Hospitalet, Barcelona, Catalonia, Spain

Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis. We report here a dominant mutation in the GJB3 gene (D66del) in a family affected with peripheral neuropathy and sensorineural hearing impairment. A wide range of disease severity for peripheral neuropathy, from asymptomatic cases to subjects with chronic skin ulcers in their feet and osteomyelitis leading to amputations, was detected in D66del patients. Mild, often asymmetrical, hearing impairment was found in all but one patient with mutation D66del of this family and the same mutation was present in an independent family ascertained because of hearing impairment. We have found mouse connexin 31 (Gjb3) gene expression in the cochlea and in the auditory and sciatic nerves, showing a pattern similar to that of Gjb1 (connexin 32), of which the human ortholog (GJB1) is involved in X-linked peripheral neuropathy. This expression pattern, together with auditory-evoked brainstem anomalous response in D66del patients, indicates that hearing impairment due to GJB3 mutations involves alterations in both the cochlea and the auditory nerve. Peripheral neuropathy is the third phenotypic alteration linked to GJB3 mutations, which enlarges the list of genes that cause this group of heterogeneous disorders.

+ To whom correspondence should be addressed. Tel: +34 93 260 7406; Fax: +34 93 2607776; Email: estivill@iro.es


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