Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
Generalized lipodystrophy
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Congenital generalized lipodystrophy type 2
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BSCL2
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Generalized lipodystrophy type 1
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| 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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| 9. |
Orphanet article Orphanet ID 528
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| 10. |
OMIM.ORG article Omim 269700
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