title: A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N).
abstract: BACKGROUND
  Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482.
  
  
  METHODS
  Here, we report on a Turkish family with FPL2 which is caused by a novel heterozygous missense LMNA mutation in exon 1 (D47N, c.139G>A), in the rod domain of lamins A/C. Fat distribution and metabolic features of LMNA D47N mutation were similar to typical codon 482 mutation. Metabolic abnormalities were observed as a form of insulin resistant diabetes, hypertriglyceridemia, low HDL cholesterol and hepatic steatosis. There was no evidence for neuromuscular and cardiac involvement.
  
  
  CONCLUSIONS
  Although it is previously known that alterations in the rod domain of type A lamins are involved in cardiac and neuromuscular diseases, our current observation shows that exon 1 LMNA mutations may be associated with partial lipodystrophy without any cardiac and neurological abnormalities, at least at the time of the presentation.
authors.affiliation: Ege University, Division of Endocrinology, Izmir, Turkey. Electronic address: nozdemirkutbay@hotmail.com.
authors.forename: Nilufer Ozdemir
authors.initials: NO
authors.lastname: Kutbay
authors.affiliation: Ege University, Division of Endocrinology, Izmir, Turkey.
authors.forename: Banu Sarer
authors.initials: BS
authors.lastname: Yurekli
authors.affiliation: Ege University, Division of Medical Genetics, Izmir, Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.affiliation: Dokuz Eylul University, Department of Radiology, Izmir, Turkey.
authors.forename: Canan Tuncer
authors.initials: CT
authors.lastname: Altay
authors.affiliation: Ege University, Division of Medical Genetics, Izmir, Turkey.
authors.forename: Tahir
authors.initials: T
authors.lastname: Atik
authors.affiliation: Celal Bayar University, Division of Endocrinology, Manisa, Turkey.
authors.forename: Zeliha
authors.initials: Z
authors.lastname: Hekimsoy
authors.affiliation: Ege University, Division of Endocrinology, Izmir, Turkey.
authors.forename: Fusun
authors.initials: F
authors.lastname: Saygili
authors.affiliation: Dokuz Eylul University, Division of Endocrinology, Izmir, Turkey.
authors.forename: Baris
authors.initials: B
authors.lastname: Akinci
mesh_terms: D000328:Adult; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics; D005091:Exons; D005234:Fatty Liver / Q000000981:diagnostic imaging; D005260:Female; D006579:Heterozygote; D006801:Humans; D007328:Insulin / Q000627:therapeutic use; D007333:Insulin Resistance / Q000235:genetics; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000188:drug therapy / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008687:Metformin / Q000627:therapeutic use; D009154:Mutation
chemical_list: D007328:Insulin; D034904:Lamin Type A; D008687:Metformin
keywords: Diabetes; Insulin resistance; LMNA; Lipodystrophy