A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene

We present the first case of a Japanese patient with familial hypobetalipoproteinemia (FHBL) caused by a protein-truncating variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene. A 34-year-old woman was referred to our hospital due to her low low-density lipoprotein (LDL)-cholest...

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Autores principales: Tada, Hayato, Okada, Hirofumi, Nomura, Akihiro, Nohara, Atsushi, Takamura, Masayuki, Kawashiri, Masa-aki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118388/
https://www.ncbi.nlm.nih.gov/pubmed/32173689
http://dx.doi.org/10.2169/internalmedicine.3737-19
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author Tada, Hayato
Okada, Hirofumi
Nomura, Akihiro
Nohara, Atsushi
Takamura, Masayuki
Kawashiri, Masa-aki
author_facet Tada, Hayato
Okada, Hirofumi
Nomura, Akihiro
Nohara, Atsushi
Takamura, Masayuki
Kawashiri, Masa-aki
author_sort Tada, Hayato
collection PubMed
description We present the first case of a Japanese patient with familial hypobetalipoproteinemia (FHBL) caused by a protein-truncating variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene. A 34-year-old woman was referred to our hospital due to her low low-density lipoprotein (LDL)-cholesterolemia (34 mg/dL). She did not have any secondary causes of hypobetalipoproteinemia. Her father and her younger sister also exhibited low LDL cholesterol levels. We identified a protein-truncating variant in the PCSK9 gene (c.1090_1091del/p.Pro364ArgfsTer62) among them. None of them exhibited atherosclerotic cardiovascular diseases nor any other complications associated with low LDL cholesterol, including fatty liver, neurocognitive disorders, or cerebral hemorrhaging.
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spelling pubmed-71183882020-04-07 A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene Tada, Hayato Okada, Hirofumi Nomura, Akihiro Nohara, Atsushi Takamura, Masayuki Kawashiri, Masa-aki Intern Med Case Report We present the first case of a Japanese patient with familial hypobetalipoproteinemia (FHBL) caused by a protein-truncating variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene. A 34-year-old woman was referred to our hospital due to her low low-density lipoprotein (LDL)-cholesterolemia (34 mg/dL). She did not have any secondary causes of hypobetalipoproteinemia. Her father and her younger sister also exhibited low LDL cholesterol levels. We identified a protein-truncating variant in the PCSK9 gene (c.1090_1091del/p.Pro364ArgfsTer62) among them. None of them exhibited atherosclerotic cardiovascular diseases nor any other complications associated with low LDL cholesterol, including fatty liver, neurocognitive disorders, or cerebral hemorrhaging. The Japanese Society of Internal Medicine 2020-03-15 2020-03-15 /pmc/articles/PMC7118388/ /pubmed/32173689 http://dx.doi.org/10.2169/internalmedicine.3737-19 Text en Copyright © 2020 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Tada, Hayato
Okada, Hirofumi
Nomura, Akihiro
Nohara, Atsushi
Takamura, Masayuki
Kawashiri, Masa-aki
A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
title A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
title_full A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
title_fullStr A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
title_full_unstemmed A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
title_short A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
title_sort healthy family of familial hypobetalipoproteinemia caused by a protein-truncating variant in the pcsk9 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118388/
https://www.ncbi.nlm.nih.gov/pubmed/32173689
http://dx.doi.org/10.2169/internalmedicine.3737-19
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