Email this article Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia
- Authors: Sorkina EL1, Kalashnikova MF1, Melnichenko GA2,3, Tyulpakov AN4
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Affiliations:
- «Первый МГМУ им. И.М. Сеченова» Минздрава России
- «Первый МГМУ им. И.М. Сеченова» Минздрава России, Москва, Россия
- «Эндокринологический научный центр» Минздрава России, Москва, Россия
- «Эндокринологический научный центр» Минздрава России
- Issue: Vol 87, No 3 (2015)
- Pages: 83-87
- Section: Editorial
- URL: https://journal-vniispk.ru/0040-3660/article/view/31730
- ID: 31730
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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.
About the authors
E L Sorkina
«Первый МГМУ им. И.М. Сеченова» Минздрава РоссииМосква, Россия
M F Kalashnikova
«Первый МГМУ им. И.М. Сеченова» Минздрава РоссииМосква, Россия
G A Melnichenko
«Первый МГМУ им. И.М. Сеченова» Минздрава России, Москва, Россия; «Эндокринологический научный центр» Минздрава России, Москва, Россия
A N Tyulpakov
«Эндокринологический научный центр» Минздрава РоссииМосква, Россия
References
- Den Dunnen J.T., Antonarakis S.E. Nomenclature for the description of human sequence variations. Hum Genet 2001; 109 (1): 121—124.
- Shackleton S. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genet 2000; 24: 153—156.
- 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.
- Rother K.I., Brown R.J. Novel forms of lipodystrophy: why should we care? Diabetes Care 2013; 36 (8): 2142—2145.
- Дадали Е.Л. Клинико-генетическая характеристика наследственных ламинопатий. Экспер и фундам неврол 2008; 4: 28—33.
- Hegele R.A. LMNA mutation position predicts organ system involvement in laminopathies. Clin Genet 2005; 68: 31—34.
- Garg A. Acquired and inherited lipodystrophies. N Engl J Med 2004; 350: 1220—1234.
- 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.
- 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.
- Fiorenza C.G., Chou S.H., Mantzoros C.S. Lipodystrophy: pathophysiology and advances in treatment. Nat Rev Endocrinol 2011; 7 (3): 137—150.
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