title: Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family.
abstract: Lipodystrophies are a heterogeneous group of diseases affecting adipose tissue distribution. Familial partial lipodystrophy of the Dunnigantype (FPLD) is a rare autosomal, dominant disorder caused by missense mutations in lamin A/C (LMNA) gene where selective loss of subcutaneous adipose tissue from the limbs and trunk, and accumulation of fat in the neck and face, is usually associated with a variety of metabolic disorders including insulin resistance, diabetes mellitus, dyslipidemia, hepatic steatosis and high blood pressure.In this report we present clinical and molecular features of three Polish women with FLPD phenotype coming from one family (a motherand her two daughters). FPLD was recognised under the circumstances of diabetes treatment, where sequencing of LMNA gene revealed heterozygous R482W mutation. In order to be able to recognise monogenic diabetes associated with lipodystrophy, it is important to bevery precise in physical examination while diagnosing diabetes and to be aware of the necessity of performing genetic testing. Diabetes appropriate differential diagnosis is essential for the treatment strategy, anticipation of the disease progression, and determination of the prognosis. It is necessary for an individual mutation carrier to look carefully at the patient's family.
authors.affiliation: Department of Internal Medicine, Diabetology and Nephrology, Medical University of Silesia, 41-800 Zabrze, Poland. knabrdalik@yahoo.com
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Nabrdalik
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Strózik
authors.forename: Mariola
authors.initials: M
authors.lastname: Minkina-Pędras
authors.forename: Przemysława
authors.initials: P
authors.lastname: Jarosz-Chobot
authors.forename: Wojciech
authors.initials: W
authors.lastname: Młynarski
authors.forename: Władysław
authors.initials: W
authors.lastname: Grzeszczak
authors.forename: Janusz
authors.initials: J
authors.lastname: Gumprecht
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D003923:Diabetes Mellitus, Lipoatrophic / Q000209:etiology* / Q000628:therapy; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011044:Poland
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A