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

Abstract

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 Berardinelli-Seip syndrome, the sequences of AGPAT2 (encoding for 1-acyl-sn-glycerol-3-phosphate acyltransferase beta) and BSCL2 (encoding for seipin) candidate genes were analyzed. DNA analysis showed the presence of a homozygous mutation in exon 3 of the AGPAT2 gene (P112L). This is the first description of a Caucasian subject with CGL who carries the pathologic allelic variant P112L of the AGPAT2 gene.

• Authors: Caterina Pelosini, Silvia Martinelli, Brunella Bagattini, Enrico Pucci, Paola Fierabracci, Giovanna Scartabelli, Guido Salvetti, Paolo Vitti, Margherita Maffei, Aldo Pinchera, Ferruccio Santini
• Journal: Acta diabetologica (Acta Diabetol) Vol. 48 Issue 3 Pg. 243-6 (Sep 2011) ISSN: 1432-5233 [Electronic] Germany
• PMID: 21744063 (Publication Type: Case Reports, Journal Article)

Chemical References

• Acyltransferases
• 2-acylglycerophosphate acyltransferase

Topics

• Acyltransferases (genetics)
• Alleles
• Base Sequence
• Consanguinity
• DNA Mutational Analysis
• Female
• Genetic Variation (physiology)
• Humans
• Lipodystrophy, Congenital Generalized (genetics)
• Middle Aged
• Models, Biological
• Pedigree
• White People (genetics)