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

Núria López-Bigas, Montserrat Olivé, Raquel Rabionet, Orit Ben-David, Juan Antonio Martínez-Matos, Olga Bravo, Isabel Banchs, Victor Volpini, Paolo Gasparini, Karen B. Avraham, Isidre Ferrer, Maria Lourdes Arbonés, Xavier P. Estivill

Research output: Contribution to journalArticle

103 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)947-952
Number of pages6
JournalHuman Molecular Genetics
Volume10
Issue number9
Publication statusPublished - 15 Apr 2001
Externally publishedYes

Fingerprint

Cochlear Nerve
Peripheral Nerves
Hearing Loss
Peripheral Nervous System Diseases
Mutation
Cochlea
Erythrokeratodermia Variabilis
Skin Ulcer
Genes
Brain Stem Auditory Evoked Potentials
Deafness
Sciatic Nerve
Osteomyelitis
Amputation
human GJB3 protein
Foot
Gene Expression

ASJC Scopus subject areas

  • Genetics

Cite this

López-Bigas, N., Olivé, M., Rabionet, R., Ben-David, O., Martínez-Matos, J. A., Bravo, O., ... Estivill, X. P. (2001). Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Human Molecular Genetics, 10(9), 947-952.

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. / López-Bigas, Núria; Olivé, Montserrat; Rabionet, Raquel; Ben-David, Orit; Martínez-Matos, Juan Antonio; Bravo, Olga; Banchs, Isabel; Volpini, Victor; Gasparini, Paolo; Avraham, Karen B.; Ferrer, Isidre; Arbonés, Maria Lourdes; Estivill, Xavier P.

In: Human Molecular Genetics, Vol. 10, No. 9, 15.04.2001, p. 947-952.

Research output: Contribution to journalArticle

López-Bigas, N, Olivé, M, Rabionet, R, Ben-David, O, Martínez-Matos, JA, Bravo, O, Banchs, I, Volpini, V, Gasparini, P, Avraham, KB, Ferrer, I, Arbonés, ML & Estivill, XP 2001, 'Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment', Human Molecular Genetics, vol. 10, no. 9, pp. 947-952.
López-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O et al. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Human Molecular Genetics. 2001 Apr 15;10(9):947-952.
López-Bigas, Núria ; Olivé, Montserrat ; Rabionet, Raquel ; Ben-David, Orit ; Martínez-Matos, Juan Antonio ; Bravo, Olga ; Banchs, Isabel ; Volpini, Victor ; Gasparini, Paolo ; Avraham, Karen B. ; Ferrer, Isidre ; Arbonés, Maria Lourdes ; Estivill, Xavier P. / Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. In: Human Molecular Genetics. 2001 ; Vol. 10, No. 9. pp. 947-952.
@article{ca8ca8b715b8489594dde7f530f42245,
title = "Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment",
abstract = "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.",
author = "N{\'u}ria L{\'o}pez-Bigas and Montserrat Oliv{\'e} and Raquel Rabionet and Orit Ben-David and Mart{\'i}nez-Matos, {Juan Antonio} and Olga Bravo and Isabel Banchs and Victor Volpini and Paolo Gasparini and Avraham, {Karen B.} and Isidre Ferrer and Arbon{\'e}s, {Maria Lourdes} and Estivill, {Xavier P.}",
year = "2001",
month = "4",
day = "15",
language = "English",
volume = "10",
pages = "947--952",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "9",

}

TY - JOUR

T1 - Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

AU - López-Bigas, Núria

AU - Olivé, Montserrat

AU - Rabionet, Raquel

AU - Ben-David, Orit

AU - Martínez-Matos, Juan Antonio

AU - Bravo, Olga

AU - Banchs, Isabel

AU - Volpini, Victor

AU - Gasparini, Paolo

AU - Avraham, Karen B.

AU - Ferrer, Isidre

AU - Arbonés, Maria Lourdes

AU - Estivill, Xavier P.

PY - 2001/4/15

Y1 - 2001/4/15

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0035871208&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035871208&partnerID=8YFLogxK

M3 - Article

VL - 10

SP - 947

EP - 952

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 9

ER -