Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Familiäre partielle Lipodystrophie Typ 2

Die familiäre partielle Lipodystrophie Typ 2 ist eine autosomal dominante Erkrankung, die durch Mutationen des LNMA-Gens hervorgerufen wird.

Symptome

Acanthosis nigricans
Die partielle Lipodystrophie 2 kann von einer Acanthosis nigricans begleitet sein.

Gliederung

Partielle Lipodystrophie
Familiäre partielle Lipodystrophie Typ 2
LMNA
Familiäre partielle Lipodystrophie Typ 3
Familiäre partielle Lipodystrophie Typ 4
Familiäre partielle Lipodystrophie Typ 5

Referenzen:

1.

Cao H et. al. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

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2.

Shackleton S et. al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

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3.

Speckman RA et. al. (2000) 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.

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4.

Garg A et. al. (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.

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5.

Schmidt HH et. al. (2001) Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.

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6.

Vigouroux C et. al. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.

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7.

Caux F et. al. (2003) A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.

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8.

Vigouroux C et. al. (2003) LMNA mutations in atypical Werner's syndrome.

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9.

Lanktree M et. al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

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10.

Köbberling J et. al. (1975) Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes.

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11.

Davidson MB et. al. (1975) Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities.

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12.

Reardon W et. al. (1990) Partial lipodystrophy syndromes--a further male case.

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13.

None (1988) Banting lecture 1988. Role of insulin resistance in human disease.

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14.

Burn J et. al. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).

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15.

Köbberling J et. al. (1986) Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.

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16.

Dunnigan MG et. al. (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

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17.

Greene ML et. al. (1970) Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia.

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18.

Wettke-Schäfer R et. al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

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19.

Robbins DC et. al. (1982) Familial partial lipodystrophy: complications of obesity in the non-obese?

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20.

Peters JM et. al. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.

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21.

Jackson SN et. al. (1998) A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

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22.

Garg A et. al. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).

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23.

Anderson JL et. al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.

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24.

None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

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25.

None (2001) Premature atherosclerosis associated with monogenic insulin resistance.

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26.

None (2004) Acquired and inherited lipodystrophies.

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27.

Spuler S et. al. (2007) Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.

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28.

Vantyghem MC et. al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.

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29.

Araújo-Vilar D et. al. (2009) Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.

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30.

None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin.

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