Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
نویسندگان
چکیده
منابع مشابه
LMNA 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 کاملLETTER 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 کاملAtypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation.
Lipodystrophies are a group of heterogeneous disorders characterized by the loss of adipose tissue and metabolic complications. The main familial forms of lipodystrophy are Congenital Generalized Lipodystrophy and Familial Partial Lipodystrophy (FPLD). FPLD may result from mutations in the LMNA gene. Besides FPLD, mutations in LMNA have been shown to be responsible for other inherited diseases ...
متن کاملProgeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness. The cardinal clinical findings were growth retardation, subcutaneous fat loss, skin dryness and wrinkling, scattered focal sclerodermoid-like changes, promin...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2009
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2009-0472