Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
| Autor: | Montserrat Olivé, Nuria Lopez-Bigas, Raquel Rabionet, Juan Antonio Martínez-Matos, Orit Ben-David, V. Volpini, Isabel Banchs, Karen B. Avraham, Olga Bravo, Isidre Ferrer, Maria L. Arbonés, Xavier Estivill, Paolo Gasparini |
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| Rok vydání: | 2001 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Hearing loss Hearing Loss Sensorineural DNA Mutational Analysis Gene Expression Connexin Biology Connexins Mice Erythrokeratodermia variabilis Peripheral Nervous System otorhinolaryngologic diseases Genetics medicine Animals Humans education Cochlear Nerve Molecular Biology In Situ Hybridization Genetics (clinical) Cochlea X-linked recessive inheritance education.field_of_study Cochlear nerve Peripheral Nervous System Diseases General Medicine Anatomy Middle Aged medicine.disease Sciatic Nerve Pedigree Mice Inbred C57BL Peripheral neuropathy Mutation Connexin 32 Female medicine.symptom |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1460-2083 |
| DOI: | 10.1093/hmg/10.9.947 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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