Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia

• Main Authors: E L Sorkina, M F Kalashnikova, G A Melnichenko, A N Tyulpakov
• Format: Article
• Language: Russian
• Published: "Consilium Medicum" Publishing house 2015-03-01
• Series: Терапевтический архив
• Subjects: lipodystrophy; lmna; insulin resistance; diabetes mellitus; acanthosis nigricans
• Online Access: https://ter-arkhiv.ru/0040-3660/article/view/31730
• ISSN: 0040-3660; 2309-5342

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.