Compound Heterozygosity in Sodium Channel Nav1.7 in a Family with Hereditary Erythermalgia
نویسندگان
چکیده
منابع مشابه
Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia
Hereditary erythermalgia is a painful and debilitating genetic disorder associated with mutations in voltage-gated sodium channel Nav1.7. We have previously reported a Canadian family segregating erythermalgia consistently with a dominant genetic etiology. Molecular analysis of the proband from the family detected two different missense mutations in Nav1.7. In the present study we have performe...
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Primary erythermalgia is a rare autosomal dominant disease characterised by intermittent burning pain with redness and heat in the extremities. A previous study established the linkage of primary erythermalgia to a 7.94 cM interval on chromosome 2q, but the causative gene was not identified. We performed linkage analysis in a Chinese family with primary erythermalgia, and screened the mutations...
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Hereditary benign telangiectasia is an uncommon idiopathic skin disorder characterized by generalized telangiectases and angiomatous lesions of the skin. The diagnosis should be suspected in patients with such cutaneous lesions, positive family history, no associated bleeding problems, and no mucosal involvement. We present six cases of hereditary benign telangiectasia in three generations of o...
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PURPOSE To report a new familial case of the recently described autosomal recessive syndrome of nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen, which arises from compound heterozygosity for Membrane Frizzled-Related Protein (MFRP) mutations in a sibling pair of Mexican origin. METHODS Ophthalmological assessment included slit-lamp and dilated fundus examination, applanation...
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PURPOSE Oguchi's disease is a rare autosomal recessive disease and known to be caused by mutations in the rhodopsin kinase (GRK1) gene or the arrestin (SAG) gene. SAG contains 16 exons and encodes a protein with 405 amino acids. This study was to identify the underlying genetic defects in a non-consanguineous Chinese family with Oguchi's disease. METHODS Ophthalmologic examinations including ...
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ژورنال
عنوان ژورنال: Molecular Pain
سال: 2008
ISSN: 1744-8069,1744-8069
DOI: 10.1186/1744-8069-4-21