Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26
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چکیده
منابع مشابه
Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26
Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to ou...
متن کاملMutation Analysis of Connexin 26 Gene and Del (GJB6-D13S1830) in Patients with Hereditary Deafness from Two Provinces in Iran
Mutations in the connexin 26 (Cx26) gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic hearing loss (ARNSHL). There are many known mutations in this gene that cause hearing loss. A single frameshift, at position 35 (35delG) accounts for 50% of mutations in the Caucasian population with carrier frequencies of 1.5-2.5%. In this study we investigated ...
متن کاملHereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".
Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided into four groups--diffuse, focal, striate and punctate PPK--according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such a...
متن کاملHereditary palmoplantar keratoderma type papulosa in Slovenia.
BACKGROUND Hereditary palmoplantar keratodermas (HPPK) are relatively frequent in Slovenia; however, the papulosa type of HPPK is rare. Epidemiological data are scarce; a population study in Croatia revealed a prevalence of 1.17/100,000 inhabitants. According to the preliminary data, it seems that HPPK papulosa is more common in Slovenia than in other countries. Efforts were made to identify al...
متن کاملCellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss – A Common Hereditary Deafness
Hearing loss due to mutations in the connexin gene family, which encodes gap junctional proteins, is a common form of hereditary deafness. In particular, connexin 26 (Cx26, GJB2) mutations are responsible for ~50% of non-syndromic hearing loss, which is the highest incidence of genetic disease. In the clinic, Cx26 mutations cause various auditory phenotypes ranging from profound congenital deaf...
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ژورنال
عنوان ژورنال: Journal of Korean Medical Science
سال: 2010
ISSN: 1011-8934
DOI: 10.3346/jkms.2010.25.10.1539