A NOVEL VARIANT OF THE AGPAT2 MUTATION IN GENERALIZED CONGENITAL LIPODYSTROPHY
نویسندگان
چکیده
منابع مشابه
Congenital 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 کاملIdentification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy (CGL) is an autosomal recessive disease characterized by the generalized scant of adipose tissue. CGL type 1 is caused by mutations in gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). A clinical and molecular genetic investigation was performed in affected and unaffected members of two families with CGL type 1. The AGPAT2 coding region ...
متن کاملIdentification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2.
Loss-of-function mutations in AGPAT2, encoding 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), produce congenital generalised lipodystrophy (CGL). We screened the AGPAT2 gene in two siblings who presented with pseudoacromegaly, diabetes and severe dyslipidaemia and identified a novel mutation in AGPAT2 causing a single amino acid substitution, p.Cys48Arg. We subsequently investigated t...
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: Australasian Medical Journal
سال: 2016
ISSN: 1836-1935
DOI: 10.21767/amj.2016.2640