A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland |
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Authors: | Małgorzata Waluś-Miarka Marek Sanak Barbara Idzior-Waluś Przemysław Miarka Przemysław Witek Maciej T Małecki Danuta Czarnecka |
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Institution: | 1.Department of Metabolic Diseases,Jagiellonian University, Medical School,Kraków,Poland;2.II Department of Internal Medicine,Jagiellonian University, Medical School,Kraków,Poland;3.Department of Nephrology,Jagiellonian University, Medical School,Kraków,Poland;4.I Department of Cardiology,Jagiellonian University, Medical School,Kraków,Poland |
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Abstract: | 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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