1. Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome
- Author
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Ferruccio Santini, Brunella Bagattini, Aldo Pinchera, Guido Salvetti, Giovanna Scartabelli, Paolo Vitti, Caterina Pelosini, Paola Fierabracci, Enrico Pucci, Silvia Martinelli, and Margherita Maffei
- Subjects
Pediatrics ,medicine.medical_specialty ,Candidate gene ,Endocrinology, Diabetes and Metabolism ,BSCL2 ,DNA Mutational Analysis ,Consanguinity ,Biology ,Models, Biological ,Seipin ,White People ,Congenital generalized lipodystrophy ,Exon ,Endocrinology ,Lipodystrophy, Congenital Generalized ,Internal Medicine ,medicine ,Humans ,Lipoatrophy ,Alleles ,Genetics ,Base Sequence ,Genetic Variation ,General Medicine ,Middle Aged ,medicine.disease ,Pedigree ,Female ,Lipodystrophy ,Acyltransferases - 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.
- Published
- 2011