title: [Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy].
abstract: To evaluate clinical, biochemical, hormonal and genetic characteristics of relatives of two patients with familial partial lipodystrophy (FPLD) type 2.
  
  
  
  Fifty subjects, members of two non-related Brazilian families from two different probands with FPLD phenotype, were evaluated. A mutation in exon 8 of LMNA gene was confirmed in 18 of them, and a heterozygous substitution at codon 482 was identified, predicting a p.R482W mutation. Based on the presence or absence of the mutation, subjects were classified in affected and unaffected, and compared in terms of clinical, biochemical and hormonal parameters.
  
  
  
  Affected subjects were 2.8 times more likely to manifest diabetes and PCOS, higher HOMA-IR, insulin and triglyceride levels, and lower levels of leptin. These changes preceded the onset of diabetes, because they were observed in diabetic and non-diabetic affected patients. A phenotypic heterogeneity was found among mutation carriers.
  
  
  
  A mutation in the LMNA gene is a determinant of clinical, biochemical and hormonal changes that imply in metabolic deterioration in mutation carriers.
authors.forename: Dayse
authors.initials: D
authors.lastname: Caldas
authors.forename: Wellington Santana da
authors.initials: WS
authors.lastname: Silva Júnior
authors.forename: José Pascoal
authors.initials: JP
authors.lastname: Simonetti
authors.forename: Eliane Veiga da
authors.initials: EV
authors.lastname: Costa
authors.forename: Maria Lucia Fleiuss de
authors.initials: ML
authors.lastname: Farias
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers; D001786:Blood Glucose; D003920:Diabetes Mellitus / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D034904:Lamin Type A / Q000235:genetics*; D020738:Leptin / Q000097:blood; D052496:Lipodystrophy, Familial Partial / Q000150:complications / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011085:Polycystic Ovary Syndrome / Q000150:complications*; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D015415:Biomarkers; D001786:Blood Glucose; C494847:LMNA protein, human; D034904:Lamin Type A; D020738:Leptin