کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1965815 1538694 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation
چکیده انگلیسی

BackgroundFamilial hypobetalipoproteinemia (FHBL), characterized by extremely low levels of plasma apolipoprotein (apo) B and cholesterol associated with low-density lipoproteins (LDLc), is considered to be an autosomal co-dominant disorder of heterogeneous origin. The main genetic disorder associated with FHBL consists of mutations in the APOB gene, while other less frequent forms are associated with mutations in NPC1L1, PCSK9, a still unidentified gene in 3p21.1-22 and, more recently, in ANGPTL3.MethodsWe scanned for ANGPTL3 mutations in 4 unrelated Spanish families with FHBL criteria but negative for mutations in APOB. The entire coding region and intron–exon boundaries of the ANGPTL3 gene were amplified and sequenced.ResultsTwo probands were positive for the same frameshift mutation, a deletion of 5 bp in codon 121 in ANGPTL3, which produces a truncated protein of 122 residues. This mutation in homozygosis was associated in both families with combined hypolipidemia, characterized by low plasma apoB, low total, LDL and HDL cholesterol and low triglycerides.ConclusionWe confirm the existence of a new phenotype of FHBL, denominated familial combined hypolipidemia, which consist of a biochemical phenotype of low LDLc, low apoB, low TG and, unlike APOB mutations, low HDL cholesterol, due to a loss-of-function mutation in ANGPTL3.


► We scanned for ANGPTL3 mutations in 4 unrelated Spanish probands with FHBL.
► We found two families carrying a new mutation associated in homozygosis with FHBL.
► We confirm the existence of a phenotype denominated familial combined hypolipidemia.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 413, Issues 5–6, 22 March 2012, Pages 552–555
نویسندگان
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