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A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland

The purpose of this investigation was to characterize a new mutation in the LDL-receptor (LDLR) gene in three families with clinically diagnosed familial hypercholesterolemia (FH) from the South-Eastern part of Poland. Mutational screening with exon by exon sequencing analysis was performed in all p...

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Autores principales: Waluś-Miarka, Małgorzata, Sanak, Marek, Idzior-Waluś, Barbara, Miarka, Przemysław, Witek, Przemysław, Małecki, Maciej T., Czarnecka, Danuta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3310989/
https://www.ncbi.nlm.nih.gov/pubmed/22160468
http://dx.doi.org/10.1007/s11033-011-1314-0
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author Waluś-Miarka, Małgorzata
Sanak, Marek
Idzior-Waluś, Barbara
Miarka, Przemysław
Witek, Przemysław
Małecki, Maciej T.
Czarnecka, Danuta
author_facet Waluś-Miarka, Małgorzata
Sanak, Marek
Idzior-Waluś, Barbara
Miarka, Przemysław
Witek, Przemysław
Małecki, Maciej T.
Czarnecka, Danuta
author_sort Waluś-Miarka, Małgorzata
collection PubMed
description The purpose of this investigation was to characterize a new mutation in the LDL-receptor (LDLR) gene in three families with clinically diagnosed familial hypercholesterolemia (FH) from the South-Eastern part of Poland. Mutational screening with exon by exon sequencing analysis was performed in all probands. The novel mutation c986G>T (Cys308Phe) in the exon 7 of LDLR gene was found in three apparently unrelated probands with FH. Analysis of the receptor activity of peripheral blood lymphocytes by binding and uptake of DiL-LDL showed a significant reduction (by 24% versus healthy control) of the fluorescent label in the lymphocytes of patients heterozygous for this mutation. Concentrations of serum LDL-C in probands before treatment were between 9.5 and 10.5 mmol/l. All patients had corneal arcus and tendon xanthoma. Clinically, families were characterized by premature coronary artery disease. This mutation occurred relatively frequently in our group of patients with FH, but this could be explained by a founder effect since we demonstrated their common ancestors.
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spelling pubmed-33109892012-03-27 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland Waluś-Miarka, Małgorzata Sanak, Marek Idzior-Waluś, Barbara Miarka, Przemysław Witek, Przemysław Małecki, Maciej T. Czarnecka, Danuta Mol Biol Rep Article The purpose of this investigation was to characterize a new mutation in the LDL-receptor (LDLR) gene in three families with clinically diagnosed familial hypercholesterolemia (FH) from the South-Eastern part of Poland. Mutational screening with exon by exon sequencing analysis was performed in all probands. The novel mutation c986G>T (Cys308Phe) in the exon 7 of LDLR gene was found in three apparently unrelated probands with FH. Analysis of the receptor activity of peripheral blood lymphocytes by binding and uptake of DiL-LDL showed a significant reduction (by 24% versus healthy control) of the fluorescent label in the lymphocytes of patients heterozygous for this mutation. Concentrations of serum LDL-C in probands before treatment were between 9.5 and 10.5 mmol/l. All patients had corneal arcus and tendon xanthoma. Clinically, families were characterized by premature coronary artery disease. This mutation occurred relatively frequently in our group of patients with FH, but this could be explained by a founder effect since we demonstrated their common ancestors. Springer Netherlands 2011-12-13 2012 /pmc/articles/PMC3310989/ /pubmed/22160468 http://dx.doi.org/10.1007/s11033-011-1314-0 Text en © The Author(s) 2011 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Article
Waluś-Miarka, Małgorzata
Sanak, Marek
Idzior-Waluś, Barbara
Miarka, Przemysław
Witek, Przemysław
Małecki, Maciej T.
Czarnecka, Danuta
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland
title A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland
title_full A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland
title_fullStr A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland
title_full_unstemmed A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland
title_short A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland
title_sort novel mutation (cys308phe) of the ldl receptor gene in families from the south-eastern part of poland
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3310989/
https://www.ncbi.nlm.nih.gov/pubmed/22160468
http://dx.doi.org/10.1007/s11033-011-1314-0
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