Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes
نویسندگان
چکیده
منابع مشابه
LETTER TO JMG Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes
H utchinson-Gilford Progeria Syndrome (HGPS, OMIM 176670), commonly called ‘‘progeria’’, occurs in <1 in 8 million births and displays striking features of ‘‘premature aging’’. 2 HGPS recapitulates most of the pathologies of normal aging at an accelerated rate, with sparing of the nervous system. Children with HGPS usually appear normal in early infancy, but at about six months of age begin to ...
متن کاملNovel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
H utchinson-Gilford Progeria Syndrome (HGPS, OMIM 176670), commonly called ‘‘progeria’’, occurs in <1 in 8 million births and displays striking features of ‘‘premature aging’’. 2 HGPS recapitulates most of the pathologies of normal aging at an accelerated rate, with sparing of the nervous system. Children with HGPS usually appear normal in early infancy, but at about six months of age begin to ...
متن کاملLMNA mutations in atypical Werner's syndrome.
BACKGROUND Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN). METHODS Of 129 index patients referred to our international registry f...
متن کاملNovel mutations in LMNA A/C gene and associated phenotypes.
Mutations in the lamin A/C gene (LMNA) have been associated with several phenotypes ranging from systemic to prevalent of muscle, heart, skin, nerve etc. More recently they have been associated with dilated cardiomyopathy (DCM) and severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC). We report four novel mutations - 3 missense and 1 deletion - in 4 unrelated patients showing ...
متن کاملDNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations
Segmental progeroid syndromes are groups of disorders with multiple features suggestive of accelerated aging. One subset of adult-onset progeroid syndromes, referred to as atypical Werner syndrome, is caused by mutations in the LMNA gene, which encodes a class of nuclear intermediate filaments, lamin A/C. We previously described rapid telomere attrition and accelerated replicative senescence in...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2003.015651