title: Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.
abstract: Familial partial lipodystrophy (FPLD) belongs to the family of laminopathies - disorders associated with mutation in the lamin A/C gene (LMNA). FPLD is characterized by loss of subcutaneous adipose tissue from the limbs, trunk and buttocks, with its concomitant accumulation on the face, neck and intra-abdominal region, and by metabolic disorders. We present the first Polish family with FPLD confirmed genetically. A 34-year-old woman admitted with myalgia and cushingoid appearance was found to have a round face with double chin, neck bump, and loss of fat on extremities. Diagnostic tests revealed impaired glucose tolerance and increased levels of liver enzymes, and ultrasonography revealed hepatic steatosis. Her 9-year-old daughter presented a similar phenotype, but no fat loss. A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the "hot spot" for FPLD. Treatment with metformin to improve insulin resistance and address the diabetes proved successful.
authors.affiliation: Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw. neurologia1-sekretariat@wum.edu.pl
authors.forename: Hanna
authors.initials: H
authors.lastname: Drac
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Madej-Pilarczyk
authors.forename: Krystyna
authors.initials: K
authors.lastname: Gospodarczyk-Szot
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Gaweł
authors.forename: Hubert
authors.initials: H
authors.lastname: Kwieciński
authors.forename: Irena
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
mesh_terms: D000273:Adipose Tissue / Q000473:pathology; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D034904:Lamin Type A