Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant disease predominantly caused by a mutation in the low-density lipoprotein receptor (LDLR) gene. Here, we describe two severely affected FH patients who were resistant to statin therapy and were managed on an apheresis program. We identified...

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Autores principales: Al-Allaf, Faisal A, Athar, Mohammad, Abduljaleel, Zainularifeen, Bouazzaoui, Abdellatif, Taher, Mohiuddin M, Own, Rakan, Al-Allaf, Ahmad F, AbuMansour, Iman, Azhar, Zohor, Ba-hammam, Faisal A, Abalkhail, Hala, Alashwal, Abdullah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785512/
https://www.ncbi.nlm.nih.gov/pubmed/27081511
http://dx.doi.org/10.1038/hgv.2014.21
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author Al-Allaf, Faisal A
Athar, Mohammad
Abduljaleel, Zainularifeen
Bouazzaoui, Abdellatif
Taher, Mohiuddin M
Own, Rakan
Al-Allaf, Ahmad F
AbuMansour, Iman
Azhar, Zohor
Ba-hammam, Faisal A
Abalkhail, Hala
Alashwal, Abdullah
author_facet Al-Allaf, Faisal A
Athar, Mohammad
Abduljaleel, Zainularifeen
Bouazzaoui, Abdellatif
Taher, Mohiuddin M
Own, Rakan
Al-Allaf, Ahmad F
AbuMansour, Iman
Azhar, Zohor
Ba-hammam, Faisal A
Abalkhail, Hala
Alashwal, Abdullah
author_sort Al-Allaf, Faisal A
collection PubMed
description Familial hypercholesterolemia (FH) is an autosomal dominant disease predominantly caused by a mutation in the low-density lipoprotein receptor (LDLR) gene. Here, we describe two severely affected FH patients who were resistant to statin therapy and were managed on an apheresis program. We identified a novel duplication variant c.1332dup, p.(D445*) at exon 9 and a known silent variant c.1413A>G, p.(=), rs5930, NM_001195798.1 at exon 10 of the LDLR gene in both patients.
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spelling pubmed-47855122016-04-14 Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia Al-Allaf, Faisal A Athar, Mohammad Abduljaleel, Zainularifeen Bouazzaoui, Abdellatif Taher, Mohiuddin M Own, Rakan Al-Allaf, Ahmad F AbuMansour, Iman Azhar, Zohor Ba-hammam, Faisal A Abalkhail, Hala Alashwal, Abdullah Hum Genome Var Article Familial hypercholesterolemia (FH) is an autosomal dominant disease predominantly caused by a mutation in the low-density lipoprotein receptor (LDLR) gene. Here, we describe two severely affected FH patients who were resistant to statin therapy and were managed on an apheresis program. We identified a novel duplication variant c.1332dup, p.(D445*) at exon 9 and a known silent variant c.1413A>G, p.(=), rs5930, NM_001195798.1 at exon 10 of the LDLR gene in both patients. Nature Publishing Group 2014-11-20 /pmc/articles/PMC4785512/ /pubmed/27081511 http://dx.doi.org/10.1038/hgv.2014.21 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by/3.0/ This work is licensed under a Creative Commons Attribution 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/3.0/
spellingShingle Article
Al-Allaf, Faisal A
Athar, Mohammad
Abduljaleel, Zainularifeen
Bouazzaoui, Abdellatif
Taher, Mohiuddin M
Own, Rakan
Al-Allaf, Ahmad F
AbuMansour, Iman
Azhar, Zohor
Ba-hammam, Faisal A
Abalkhail, Hala
Alashwal, Abdullah
Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia
title Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia
title_full Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia
title_fullStr Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia
title_full_unstemmed Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia
title_short Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia
title_sort identification of a novel nonsense variant c.1332dup, p.(d445*) in the ldlr gene that causes familial hypercholesterolemia
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785512/
https://www.ncbi.nlm.nih.gov/pubmed/27081511
http://dx.doi.org/10.1038/hgv.2014.21
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