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Article

Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome.

Acta diabetologica - 1 Sept 2011

Pelosini Caterina, Martinelli Silvia, Bagattini Brunella, Pucci Enrico, Fierabracci Paola, Scartabelli Giovanna, Salvetti Guido, Vitti Paolo, Maffei Margherita, Pinchera Aldo, Santini Ferruccio

Abstract excerpt

A 54-year-old Italian female patient was admitted to our Department with the diagnosis of type 2 diabetes poorly controlled with insulin therapy. The patient was born by consanguineous parents (first degree cousins); she had acromegaloid features, diffuse lipoatrophy and muscular pseudo-hypertrophy since childhood. To confirm the clinical hypothesis of congenital generalized lipodystrophy (CGL) or...

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Identifiers

PMID: 21744063
DOI: 10.1007/s00592-011-0308-7

Genes

AGPAT2
BSCL2

Variants

Provenance

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Related research

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Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome.PMID 21744063Read ↗

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Berardinelli-Seip syndrome.Semantic proximity Read ↗

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.Semantic proximity Read ↗

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

A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.Semantic proximity Read ↗

Genetic basis of congenital generalized lipodystrophy.Semantic proximity Read ↗

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

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.Semantic proximity Read ↗

Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways.Semantic proximity Read ↗

The Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy PathophysiologySemantic proximity Read ↗

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