A common frameshift mutation and other variants in GJB4 (connexin 30.3)

Analysis of hearing impairment families.

Núria López-Bigas, Salvatore Melchionda, Paolo Gasparini, Alfonso Borragán, Maria Lourdes Arbonés, Xavier P. Estivill

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Mutations in GJB1, GJB2, GJB3 and GJB6 are involved in hearing impairment. GJB2, GJB3 and GJB6 are also mutated in patients with hyperproliferative skin disorders. The human GJB4 gene has been deduced in silico and a mutation in a family with erythrokeratodermia variabilis has been reported. We describe here the analysis of the GJB4 gene in hearing impairment patients and control subjects. We have identified a common (4%) frameshift mutation (154del4) in GJB4 in both affected and hearing subjects, one patient being homozygous for the mutation. We have also detected five amino acid variants (R103C, R124Q, R160C, C169W and E204A) in individuals that have not skin disorders. While mutation 154del4 is not associated with hearing impairment the involvement of some of the amino acid variants detected here is uncertain. These GJB4 variants should help to define the putative role of connexin 30.3 in both skin disorders and hearing impairment.

Original languageEnglish
Pages (from-to)458
Number of pages1
JournalHuman Mutation
Volume19
Issue number4
Publication statusPublished - Apr 2002
Externally publishedYes

Fingerprint

Frameshift Mutation
Hearing Loss
Mutation
Skin
Erythrokeratodermia Variabilis
Amino Acids
Computer Simulation
Hearing
Genes
connexin 30.3

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

López-Bigas, N., Melchionda, S., Gasparini, P., Borragán, A., Arbonés, M. L., & Estivill, X. P. (2002). A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. Human Mutation, 19(4), 458.

A common frameshift mutation and other variants in GJB4 (connexin 30.3) : Analysis of hearing impairment families. / López-Bigas, Núria; Melchionda, Salvatore; Gasparini, Paolo; Borragán, Alfonso; Arbonés, Maria Lourdes; Estivill, Xavier P.

In: Human Mutation, Vol. 19, No. 4, 04.2002, p. 458.

Research output: Contribution to journalArticle

López-Bigas, N, Melchionda, S, Gasparini, P, Borragán, A, Arbonés, ML & Estivill, XP 2002, 'A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.', Human Mutation, vol. 19, no. 4, pp. 458.
López-Bigas, Núria ; Melchionda, Salvatore ; Gasparini, Paolo ; Borragán, Alfonso ; Arbonés, Maria Lourdes ; Estivill, Xavier P. / A common frameshift mutation and other variants in GJB4 (connexin 30.3) : Analysis of hearing impairment families. In: Human Mutation. 2002 ; Vol. 19, No. 4. pp. 458.
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