Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies
نویسندگان
چکیده
منابع مشابه
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous genetic disease characterized by near absence of adipose tissue and severe insulin resistance. We have previously identified mutations in the seipin gene in a subset of our patients' cohort. Recently, disease-causing mutations in AGPAT2 have been reported in BSCL patients. In this study, we have performed mutation screening in...
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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...
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ژورنال
عنوان ژورنال: Diabetes
سال: 2003
ISSN: 0012-1797,1939-327X
DOI: 10.2337/diabetes.52.6.1573