Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital generalized lipodystrophy type 2

Berardinelli-Seip syndrome is an autosomal recessive disorder caused by mutations of the BSCL2 gene. It represents like an endocrinopathy: acromegaloid gigantism, hypertrophy of muscles and genitalia, polycystic ovaries, generalised progressive lipodystrophy, hyperlipidemia, hepatosplenomegaly, acanthosis nigrans, and insulin resistent diabetes.

Systematic

Generalized lipodystrophy
Congenital generalized lipodystrophy type 2
BSCL2
Generalized lipodystrophy type 1

References:

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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Update: Sept. 26, 2018