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Titolo:
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
Autore:
Speckman, RA; Garg, A; Du, FH; Bennett, L; Veile, R; Arioglu, E; Taylor, SI; Lovett, M; Bowcock, AM;
Indirizzi:
Washington Univ, Sch Med, Div Human Genet, Dept Genet, St Louis, MO 63110 USA Washington Univ St Louis MO USA 63110 Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Pediat, Dept Genet, St Louis, MO 63110 USA Washington Univ St Louis MO USA 63110 Dept Genet, St Louis, MO 63110 USA Univ Texas, SW Med Ctr, Dept Internal Med, Dallas, TX USA Univ Texas Dallas TX USA , SW Med Ctr, Dept Internal Med, Dallas, TX USA NIDDK, Diabet Branch, Bethesda, MD USA NIDDK Bethesda MD USANIDDK, Diabet Branch, Bethesda, MD USA
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 4, volume: 66, anno: 2000,
pagine: 1192 - 1198
SICI:
0002-9297(200004)66:4<1192:MAHAOF>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
INTERMEDIATE FILAMENT PROTEINS; NUCLEAR-ENVELOPE; CHROMOSOME 1Q21-22; ROD DOMAIN; GENE; MEMBRANE; BINDING; DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Speckman, RA Washington Univ, Sch Med, Div Human Genet, Dept Genet, Box 8232,4566 ScottAve, St Louis, MO 63110 USA Washington Univ Box 8232,4566 Scott Ave St Louis MO USA 63110
Citazione:
R.A. Speckman et al., "Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C", AM J HU GEN, 66(4), 2000, pp. 1192-1198

Abstract

Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder characterized by marked loss of subcutaneous adipose tissue from the extremities and trunk but by excess fat deposition in the head and neck. The disease is frequently associated with profound insulin resistance, dyslipidemia, and diabetes. We have localized a gene for FPLD to chromosome 1q21-q23, and it has recently been proposed that nuclear lamin A/C isaltered in FPLD, on the basis of a novel missense mutation (R482Q) in fiveCanadian probands. This gene had previously been shown to be altered in autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD-AD) and in dilatedcardiomyopathy and conduction-system disease. We examined 15 families withFPLD for mutations in lamin A/C. Five families harbored the R482Q alteration that segregated with the disease phenotype. Seven families harbored an R482W alteration, and one family harbored a G465D alteration. All these mutations lie within exon 8 of the lamin A/C gene-an exon that has also been shown to harbor different missense mutations that are responsible for EDMD-AD. Mutations could not be detected in lamin A/C in one FPLD family in which there was linkage to chromosome 1q21-q23. One family with atypical FPLD harbored an R582H alteration in exon 11 of lamin A. This exon does not comprise part of the lamin C coding region. All mutations in FPLD affect the globular C-terminal domain of the lamin A/C protein. In contrast, mutations responsible for dilated cardiomyopathy and conduction-system disease are observed in the rod domain of the protein. The FPLD mutations R482Q and R482W occurred on different haplotypes, indicating that they are likely to have arisen more than once.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 09:01:45