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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2011-09

AUTHORS

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

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. More... »

PAGES

243

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00592-011-0308-7

DOI

http://dx.doi.org/10.1007/s00592-011-0308-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1028587093

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21744063


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40 schema:description 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.
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