Abstract
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. 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. 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.
References
Mar 21, 1998·Nature Genetics·J M PetersA Garg
Aug 6, 2000·Annals of Internal Medicine·E AriogluS I Taylor
Nov 15, 2000·Diabetes·C VigourouxJ Capeau
May 17, 2002·The American Journal of Medicine·Abhimanyu GargAnne M Bowcock
Sep 27, 2003·Diabetic Medicine : a Journal of the British Diabetic Association·Katharine R OwenAndrew T Hattersley
May 29, 2004·Science·Stella GeorgeInês Barroso
Aug 23, 2007·The Journal of Clinical Endocrinology and Metabolism·Aurélie DecaudainCorinne Vigouroux
Oct 16, 2007·Diabetes & Metabolism·F MoreauN Jeandidier
Nov 23, 2007·Clinical Endocrinology·David Araújo-VilarAna Teresa Costa-Freitas
Jan 12, 2010·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Jean L Chan, Elif A Oral
Feb 25, 2011·The New England Journal of Medicine·Sheetal GandotraCorinne Vigouroux
Sep 29, 2011·The Journal of Pathology·Howard J Worman
Jan 26, 2012·Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme·A LuedtkeJ Jordan
Jun 16, 2012·European Journal of Endocrinology·Patricia B MoryRegina S Moisés
Jul 19, 2012·Muscle & Nerve·Nicola CarboniMaria G Marrosu
Jun 7, 2013·Drugs·Ken Chou, Caroline M Perry
Oct 3, 2014·Neurology·Lorenzo MaggiLucia Morandi