A mutation in the c-Fos gene associated with congenital generalized lipodystrophy
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منابع مشابه
A mutation in the c-Fos gene associated with congenital generalized lipodystrophy
BACKGROUND Congenital generalized lipodystrophy (CGL) or Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic syndrome characterized by the absence of adipose tissue. As CGL is thought to be related to malfunctions in adipocyte development, genes involved in the mechanisms of adipocyte biology and maintenance or differentiation of adipocytes, especially transcription factors are ...
متن کاملCongenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation
BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...
متن کاملDeletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family
BACKGROUND Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2...
متن کاملcongenital generalized lipodystrophy in a youth presented with sclerotic and lytic bone lesions; a family with agpat2 mutation
backgroundcongenital generalized lipodystrophy (cgl) is a rare disease. it is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.case presentationwe report a 25- year- old female with 1-acylglycerol-3-phosphate-o-acyltransferase 2 (apgat2) mutation, and both sclerotic and lytic bone lesions together for the first time. bone cyst i...
متن کاملCongenital generalized lipodystrophy.
Clinical features of congenital generalized lipodystrophy, a rare disorder, first described by Zeigler include loss of subcutaneous fat, hepatomegaly, increased bone growth, hyperlipaemia and, later, diabetes. The inheritance is probably autosomal recessive. Generalized lipodystrophy may involve the diencephalon. A probable defect in the hypothalamus may lead to increased levels of hypothalamic...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2013
ISSN: 1750-1172
DOI: 10.1186/1750-1172-8-119