Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198219
Type: Artigo de periódico
Title: Connexin Mutations In Brazilian Patients With Skin Disorders With Or Without Hearing Loss.
Author: Alexandrino, Fabiana
de Oliveira, Camila Andréa
Magalhães, Renata F
Florence, Michelle E B
de Souza, Elemir M
Sartorato, Edi Lúcia
Abstract: The connexins are a family of proteins whose major function is as part of the gap junctions of cell-to-cell channels. They are expressed in several tissues including brain, skin, and cochlea. Mutations in connexin genes play a major role in non-syndromic sensorineural deafness, but have been also described in individuals with variable dermatological features. In recent years, many genes responsible for hereditary skin diseases have been discovered. These genes may encode different proteins that participate in the terminal differentiation of the epidermis. Therefore alteration or absence of these proteins causes a keratinization disorder. It has been demonstrated that distinct germline mutations within six connexin (Cx) genes GJB2 (Cx26), GJB6 (Cx30), GJB3 (Cx31), GJA1 (Cx43), GJB4 (Cx30.3), and GJB5 (Cx31.1), may cause sensorineural hearing loss and various skin disease phenotypes. The crucial functional importance of each of these connexins in the mentioned ectodermic tissues is reflected by the finding that genetic defects in their genes produce a wide spectrum of genetic disorders comprising sensorineural hearing loss, disorders of cornification of the skin, hair, and nails, and keratitis. Here, we report on different mutations in the connexin genes in individuals with or without hearing loss and different skin disorders illustrating the clinical and genetic heterogeneity of the condition.
Subject: Brazil
Connexins
Dna Mutational Analysis
Genotype
Hearing Loss, Sensorineural
Humans
Mutation
Phenotype
Polymorphism, Single Nucleotide
Skin Diseases, Genetic
Syndrome
Citation: American Journal Of Medical Genetics. Part A. v. 149A, n. 4, p. 681-4, 2009-Feb.
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.32765
Address: http://www.ncbi.nlm.nih.gov/pubmed/19283857
Date Issue: 2009
Appears in Collections:Unicamp - Artigos e Outros Documentos

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