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

Cite item

Full Text


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.


  1. Den Dunnen J.T., Antonarakis S.E. Nomenclature for the description of human sequence variations. Hum Genet 2001; 109 (1): 121—124.
  2. Shackleton S. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genet 2000; 24: 153—156.
  3. Vantyghem M.C., Pigny P., Maurage C.A. et al. Patients with familial partial lipodystrophy of the Dunnigan type due to LMNA R482W mutation show muscular and cardiac abnormalities. J Clin Endocr Metab 2003; 89 (11): 5337—5346.
  4. Rother K.I., Brown R.J. Novel forms of lipodystrophy: why should we care? Diabetes Care 2013; 36 (8): 2142—2145.
  5. Дадали Е.Л. Клинико-генетическая характеристика наследственных ламинопатий. Экспер и фундам неврол 2008; 4: 28—33.
  6. Hegele R.A. LMNA mutation position predicts organ system involvement in laminopathies. Clin Genet 2005; 68: 31—34.
  7. Garg A. Acquired and inherited lipodystrophies. N Engl J Med 2004; 350: 1220—1234.
  8. Speckman R.A., Garg A., Du F. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet 2000; 66 (4): 1192— 1198.
  9. Araujo-Vilar D., Lattenzi G., Gonzalez-Mendez B. Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. J Med Genet 2009; 46: 40—48.
  10. Fiorenza C.G., Chou S.H., Mantzoros C.S. Lipodystrophy: pathophysiology and advances in treatment. Nat Rev Endocrinol 2011; 7 (3): 137—150.

Copyright (c) 2015 Consilium Medicum

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Address of the Editorial Office:

  • Novij Zykovskij proezd, 3, 40, Moscow, 125167

Correspondence address:

  • Alabyan Street, 13/1, Moscow, 127055, Russian Federation

Managing Editor:

  • Tel.: +7 (926) 905-41-26
  • E-mail: e.gorbacheva@ter-arkhiv.ru


© 2018-2021 "Consilium Medicum" Publishing house

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies