Novel APOB mutation in familial hypobetalipoproteinemia

•Familial hypobetalipoproteinemia (type1 and 2) is a rare codominant genetic disorder•More than 50% of FHBL1 heterozygous individuals have APOB gene variants•Loss-of-function mutations in ANGPTL3 cause FHBL2•We report a family with a novel APOB variant coexisting with a known ANGPTL3 variant  ...

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Veröffentlicht in:	Journal of clinical lipidology 2022-01, Vol.16 (1), p.28-32
Hauptverfasser:	Domenech, M., Llano-Rivas, Isabel, Arroyo, Vicente, Ortega, Emilio
Format:	Artikel
Sprache:	eng
Schlagworte:	ANGPTL3 APOB mutation Apolipoproteins B - genetics Familial hypobetalipoproteinemia Fatty liver Humans Hypobetalipoproteinemia, Familial, Apolipoprotein B - genetics Hypobetalipoproteinemias - genetics Hypocholesterolemia Mutation
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Beschreibung
Zusammenfassung:	•Familial hypobetalipoproteinemia (type1 and 2) is a rare codominant genetic disorder•More than 50% of FHBL1 heterozygous individuals have APOB gene variants•Loss-of-function mutations in ANGPTL3 cause FHBL2•We report a family with a novel APOB variant coexisting with a known ANGPTL3 variant
ISSN:	1933-2874 1876-4789
DOI:	10.1016/j.jacl.2021.11.003