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Article

Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients.

Journal of inherited metabolic disease - 1 Jan 2005

Gomes K B, Pardini V Cavalcanti, Ferreira A Clayton de Souza, Fernandes A P

Abstract excerpt

The Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is characterized by a near-total congenital absence of fat and predisposition to develop diabetes mellitus. We have previously reported that 22 patients from 16 consanguineous pedigrees living in the northeastern region of Brazil had a homozygous 669insA mutation in the Seipin gene (BSCL2 locus), while all of the 10 investigated subjects from the...

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Source

Identifiers

PMID: 16435205
DOI: 10.1007/s10545-005-0038-5

Genes

BSCL2
AGPAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients.PMID 16435205Read ↗

Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.Semantic proximity Read ↗

Prevalence of mutations in AGPAT2 among human lipodystrophies.Semantic proximity Read ↗

Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).Semantic proximity Read ↗

Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.Semantic proximity Read ↗

Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report.Semantic proximity Read ↗

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.Semantic proximity Read ↗

Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.Semantic proximity Read ↗

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.Semantic proximity Read ↗

AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.Semantic proximity Read ↗

[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].Semantic proximity Read ↗

Berardinelli-Seip congenital lipodystrophy.Semantic proximity Read ↗

Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.Semantic proximity Read ↗

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