Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family

作者：Nabrdalik Katarzyna^*; Strozik Agnieszka; Minkina Pedras Mariola; Jarosz Chobot Przemyslawa; Mlynarski Wojciech; Grzeszczak Wladyslaw; Gumprecht Janusz

来源：Endokrynologia Polska, 2013, 64(4): 306-310.

DOI：10.5603/EP.2013.0010

• diabetes mellitus
• familial partial lipodystrophy
• laminopathy
• LMNA gene

Lipodystrophies are a heterogeneous group of diseases affecting adipose tissue distribution. Familial partial lipodystrophy of the Dunnigan type (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 mother and 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 be very 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%26apos;s family.

• 出版日期2013