Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.

Détails

ID Serval
serval:BIB_15267
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
Périodique
American journal of human genetics
Auteur(s)
Macari F., Landau M., Cousin P., Mevorah B., Brenner S., Panizzon R., Schorderet D.F., Hohl D., Huber M.
ISSN
0002-9297
Statut éditorial
Publié
Date de publication
2000
Peer-reviewed
Oui
Volume
67
Numéro
5
Pages
1296-301
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
Erythrokeratodermia variabilis (EKV) is an autosomal dominant keratinization disorder characterized by migratory erythematous lesions and fixed keratotic plaques. All families with EKV show mapping to chromosome 1p34-p35, and mutations in the gene for connexin 31 (Cx31) have been reported in some but not all families. We studied eight affected and three healthy subjects in an Israeli family, of Kurdish origin, with EKV. After having mapped the disorder to chromosome 1p34-p35, we found no mutations in the genes for Cx31, Cx31.1, and Cx37. Further investigation revealed a heterozygous T-->C transition leading to the missense mutation (F137L) in the human gene for Cx30.3 that colocalizes on chromosome 1p34-p35. This nucleotide change cosegregated with the disease and was not found in 200 alleles from normal individuals. This mutation concerns a highly conserved phenylalanine, in the third transmembrane region of the Cx30.3 molecule, known to be implicated in the wall formation of the gap-junction pore. Our results show that mutations in the gene for Cx30.3 can be causally involved in EKV and point to genetic heterogeneity of this disorder. Furthermore, we suggest that our family presents a new type of EKV because of the hitherto unreported association with erythema gyratum repens.
Mots-clé
Adult, Alleles, Amino Acid Sequence, Base Sequence, Child, Chromosome Mapping, Chromosomes, Human, Pair 1, Connexins, DNA Mutational Analysis, Erythema, Female, Genetic Heterogeneity, Haplotypes, Humans, Israel, Keratins, Linkage (Genetics), Male, Molecular Sequence Data, Mutation, Missense, Pedigree, RNA, Messenger, Sequence Alignment
Pubmed
Web of science
Open Access
Oui
Création de la notice
19/11/2007 12:08
Dernière modification de la notice
20/08/2019 12:44
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