title: [Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia].
abstract: Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis nigricans, dyslipidemia, hepatic steatosis, hypertension, and polycystic ovary syndrome. The laminopathy variant familial partial lipodystrophy type 2 or Dunnigan syndrome (FPLD2) is the most common cause of partial LD. The paper describes a family (3 clinical cases) with FPLD2 caused by heterozygous R482W missense mutations in the gene encoding the protein lamin A/C (LMNA; 150330). This observation demonstrates that specialists should be more aware of this disease and make a timely diagnose in cases of concurrent severe metabolic disturbances at a young age, which contributes to more effective treatment of patients and to medical genetic counseling of their families.
authors.affiliation: Department of Endocrinology, Faculty of Therapeutics, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow, Russia.
authors.forename: E L
authors.initials: EL
authors.lastname: Sorkina
authors.affiliation: Department of Endocrinology, Faculty of Therapeutics, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow, Russia.
authors.forename: M F
authors.initials: MF
authors.lastname: Kalashnikova
authors.affiliation: Department of Endocrinology, Faculty of Therapeutics, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow, Russia; Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: G A
authors.initials: GA
authors.lastname: Melnichenko
authors.affiliation: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: A N
authors.initials: AN
authors.lastname: Tyulpakov
mesh_terms: D031204:Caloric Restriction; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007004:Hypoglycemic Agents / Q000008:administration & dosage / Q000627:therapeutic use; D007333:Insulin Resistance; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D009154:Mutation; D000077205:Pioglitazone; D012426:Russia; D045162:Thiazolidinediones / Q000008:administration & dosage / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D007004:Hypoglycemic Agents; C494847:LMNA protein, human; D034904:Lamin Type A; D045162:Thiazolidinediones; D000077205:Pioglitazone