A Novel Insertional Mutation in Loricrin in Vohwinkel’s Keratoderma
نویسندگان
چکیده
منابع مشابه
A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma
DEAR EDITOR, The dramatic presentation of a collodion baby is most commonly associated with a diagnosis of autosomal recessive ichthyosis (ARCI). We investigated a family wherein the father and all four children were collodion at birth, implying an autosomal dominant inheritance pattern. Postnatally, the affected individuals presented with variable degrees of generalized ichthyosis and palmopla...
متن کاملNovel autosomal dominant mutation in loricrin presenting as prominent ichthyosis
DEAR EDITOR, Loricrin keratoderma (syn. Camisa syndrome, OMIM 604117) is a rare autosomal dominant genodermatosis characterized by palmoplantar keratoderma and ichthyosis. It is caused by mutations in loricrin, a small basic protein synthesized in the upper granular layer, which becomes a major constituent of the cornified cell envelope. Seven distinct mutations in loricrin have been reported i...
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BACKGROUND & OBJECTIVES Multiple suphphatase deficiency (MSD) is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying factor 1 (SUMF1). We describe here the mutation analysis of a case of MSD. METHODS The proband was a fo...
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Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 1998
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.1998.00343.x