An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.
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چکیده
منابع مشابه
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
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 subj...
متن کاملA mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
Erythrokeratodermia variabilis (EKV) is a skin disorder characterized by variable (transient) erythemas and fixed keratosis. The disorder maps to chromosome 1p34-35, a location that contains the GJB3 gene encoding the gap junction protein connexin 31. Until now, only heterozygote mutations in the form of dominant inheritance have been described in this gene associated with EKV. We report here a...
متن کاملDominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia
Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches of erythema, localized or generalized scaling, and frequent palmoplantar keratoderma. By using exome sequencing, we ...
متن کاملNovel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.
© 2012 The Authors. doi: 10.2340/00015555-1436 Journal Compilation © 2012 Acta Dermato-Venereologica. ISSN 0001-5555 Erythrokeratodermia variabilis (EKV, MIM: 133200) is a rare autosomal dominant disorder characterized by the association of: (i) localized or generalized hyperkeratosis, and (ii) transient erythematous areas (1). Hyperkeratotic areas show well-demarcated, geographically outlined,...
متن کاملMolecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.
Connexins are homologous four-transmembrane-domain proteins and major components of gap junctions. We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31 (Cx31) or 30.3 (Cx30.3), as causally involved in erythrokeratodermia variabilis (EKV), a mostly autosomal dominant disorder of keratinization. Despite slight differences, phenotypes of EKV Mendes Da Co...
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ورودعنوان ژورنال:
- Acta dermato-venereologica
دوره 91 6 شماره
صفحات -
تاریخ انتشار 2011