title: 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: Department of Endocrinology and Kidney, University Hospital of Pisa, Italy.
authors: Caterina
authors: C
authors: Pelosini
authors: Silvia
authors: S
authors: Martinelli
authors: Brunella
authors: B
authors: Bagattini
authors: Enrico
authors: E
authors: Pucci
authors: Paola
authors: P
authors: Fierabracci
authors: Giovanna
authors: G
authors: Scartabelli
authors: Guido
authors: G
authors: Salvetti
authors: Paolo
authors: P
authors: Vitti
authors: Margherita
authors: M
authors: Maffei
authors: Aldo
authors: A
authors: Pinchera
authors: Ferruccio
authors: F
authors: Santini
mesh_terms: D000217:Acyltransferases / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation / Q000502:physiology; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000235:genetics*; D008875:Middle Aged; D008954:Models, Biological; D010375:Pedigree; D044465:White People / Q000235:genetics
chemical_list: D000217:Acyltransferases; C018764:2-acylglycerophosphate acyltransferase