Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale progressive Lipodystrophie Typ 2

Das Berardinelli-Seip-Syndrom ist eine autosomal rezessive Erkrankung die wie eine Endokrinopathie imponiert. Zum Syndrom gehören Akromegaler Hochwuchs, Muskelhypertrophie, Hypergenitalismus, polyzystische Ovarien, generalisierte progressive Lipodystrophie, Hyperlipämie, Hepatosplenomegalie, Acanthosis nigrans und insulinresistenter Diabetes. Ursächlich sind Mutationen des BSCL2-Gens.

Gliederung

Generalisierte Lipodystrophie
Generalisierte Lipodystrophie Typ 1
Kongenitale progressive Lipodystrophie Typ 2
BSCL2

Referenzen:

1.

None (2004) Acquired and inherited lipodystrophies.

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2.

Agarwal AK et al. (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

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3.

Fu M et al. (2004) Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.

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4.

Magré J et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

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5.

Ebihara K et al. (2004) Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.

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6.

Friguls B et al. () Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

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7.

Van Maldergem L et al. (2002) Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

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8.

Simha V et al. (2003) Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.

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