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The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation

Martín-Campos, Jesús M., Roig, Rosa, Mayoral, Carme, Martinez, Silvia, Martí, Gertrudis, Arroyo, Juan Antonio, Julve, Josep, Blanco-Vaca, Francisco·2012·Clinica Chimica Acta
DOI 10.1016/j.cca.2011.11.020
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Abstract

Background Familial 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. Methods We 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. Results Two 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. Conclusion We 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.

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Crossref · 10.1016/j.cca.2011.11.020

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  • Mice and humans lacking ANGPTL3 have lower plasma cholesterol levels.

    “In addition to decreased plasma triglycerides, mice and humans lacking ANGPTL3 also have lower plasma cholesterol levels (16, 18, 106, 108, 109, 116–118).”

    From Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8 (2021) · cites this paper as [116]

  • Loss of ANGPTL3 results in hypotriglyceridemia and familial combined hypolipidemia.

    “In the case of ANGPTL3, loss of ANGPTL3 results not only in hypotriglyceridemia, but in familial combined hypolipidemia (108, 109, 116–118).”

    From Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8 (2021) · cites this paper as [116]

Citations

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Research works printed but not linked: 24

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Metadata

Authors
Martín-Campos, J. M., Roig, R., Mayoral, C., Martinez, S., Martí, G., Arroyo, J. A., Julve, J., & Blanco-Vaca, F.
Venue
Clinica Chimica Acta
Publisher
Elsevier BV
Published
2012-03
Volume
413
Issue
5-6
Pages
552-555
ISSN
0009-8981
DOI
10.1016/j.cca.2011.11.020
Cited by
65
References
3
Language
en
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)

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