Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy | Zendy

Chong Ae Kim | Zendy; Marc Delépine | Zendy; Emilie Boutet | Zendy; Haquima El Mourabit | Zendy; Soazig Le Lay | Zendy; Muriel Meier | Zendy; Moemani | Zendy; E. Bridel | Zendy; Claudia C. Leite | Zendy; Débora Romeo Bertola | Zendy; Robert K. Semple | Zendy; Stephen O’Rahilly | Zendy; Isabelle Dugail | Zendy; Jacqueline Capeau | Zendy; Mark Lathrop | Zendy; Jocelyne Magré | Zendy

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Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

Author(s) -

Chong Ae Kim,

Marc Delépine,

Emilie Boutet,

Haquima El Mourabit,

Soazig Le Lay,

Muriel Meier,

Moemani,

E. Bridel,

Claudia C. Leite,

Débora Romeo Bertola,

Robert K. Semple,

Stephen O’Rahilly,

Isabelle Dugail,

Jacqueline Capeau,

Mark Lathrop,

Jocelyne Magré

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-1328

Subject(s) - nonsense mutation , lipodystrophy , nonsense , genetics , medicine , mutation , endocrinology , biology , gene , antiretroviral therapy , missense mutation , virus , viral load

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by near absence of adipose tissue, resulting in severe dyslipidemia and insulin resistance. In most reported cases, BSCL is due to alterations in either seipin, of unknown function, or 1-acylglycerol-3-phosphate acyltransferase-beta (AGPAT2), which catalyzes the formation of phosphatidic acid.

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