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A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

https://arctichealth.org/en/permalink/ahliterature36531
Source
Clin Genet. 1992 Dec;42(6):288-95
Publication Type
Article
Date
Dec-1992
Author
O K Rødningen
O. Røsby
S. Tonstad
L. Ose
K. Berg
T P Leren
Author Affiliation
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Source
Clin Genet. 1992 Dec;42(6):288-95
Date
Dec-1992
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Base Sequence
Blotting, Southern
Child
Cholesterol - blood
DNA - analysis
Exons - genetics
Female
Haplotypes
Humans
Hypercholesterolemia, Familial - genetics
Male
Middle Aged
Molecular Sequence Data
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Sequence Deletion
Xanthomatosis - etiology
Abstract
Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries.
PubMed ID
1362925 View in PubMed
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[Application of gene technology in the diagnosis of familial hypercholesterolemia]

https://arctichealth.org/en/permalink/ahliterature54549
Source
Tidsskr Nor Laegeforen. 1997 Feb 20;117(5):678-81
Publication Type
Article
Date
Feb-20-1997
Author
T P Leren
K S Bakken
O K Rødningen
K E Gundersen
H. Sundvold
K. Berg
S. Tonstad
L. Ose
Author Affiliation
Avdeling for medisinsk genetikk, Ullevål sykehus, Blindern, Oslo.
Source
Tidsskr Nor Laegeforen. 1997 Feb 20;117(5):678-81
Date
Feb-20-1997
Language
Norwegian
Publication Type
Article
Keywords
DNA Mutational Analysis
English Abstract
Female
Genetic Techniques
Humans
Hypercholesterolemia, Familial - diagnosis - genetics
Male
Norway
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Abstract
Familial hypercholesterolaemia is an autosomal dominant disorder characterized by hypercholesterolaemia, xanthomas and premature coronary heart disease. Treatment of hypercholesterolemia is effective and consists of dietary changes and lipid lowering drugs. Only a minor proportion of familial hypercholesterolaemia patients are adequately treated, however. One explanation for this is assumed to be the relatively vague clinical diagnostic criteria applied. Because familial hypercholesterolaemia is caused by a mutation in the gene encoding the low density lipoprotein (LDL) receptor, mutation analysis of this gene could form the basis for specific diagnosis. 29 different mutations in the LDL receptor gene have been found to cause familial hypercholesterolaemia among Norwegian patients, and a total of 681 patients from 322 unrelated families have been provided with a molecular genetic diagnosis. We conclude that the use of molecular genetic analysis is feasible, and should be used clinically.
PubMed ID
9102960 View in PubMed
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Identification of the apo B-3500 mutation in the Norwegian population.

https://arctichealth.org/en/permalink/ahliterature35323
Source
Scand J Clin Lab Invest. 1995 May;55(3):217-21
Publication Type
Article
Date
May-1995
Author
T P Leren
O K Rødningen
S. Tonstad
O. Røsby
P. Urdal
L. Ose
Author Affiliation
Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.
Source
Scand J Clin Lab Invest. 1995 May;55(3):217-21
Date
May-1995
Language
English
Publication Type
Article
Keywords
Adult
Apolipoproteins B - genetics
Child
Cholesterol - blood
DNA - analysis
Female
Genes, Dominant
Haplotypes - genetics
Heterozygote
Humans
Hypercholesterolemia, Familial - ethnology - genetics
Male
Norway
Point Mutation
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Abstract
Familial defective apolipoprotein B-100 (FDB) is caused by a mutation in codon 3500 of the apo B gene. It is inherited in a co-dominant fashion and is characterized by hypercholesterolaemia. Thus, FDB has similar features to familial hypercholesterolaemia (FH). In order to investigate whether some of the Norwegian subjects diagnosed as having FH actually have FDB, we have screened 208 Norwegian FH heterozygotes for the apo B-3500 mutation. One of the subjects possessed the mutation which was on a haplotype compatible with the mutation-bearing haplotype found in other populations. Although, hypercholesterolaemia segregated with haplotypes both at the apolipoprotein B and low density lipoprotein (LDL) receptor loci in the proband's family, LDL receptor analysis revealed that the proband was not doubly heterozygous for FDB and FH.
PubMed ID
7638555 View in PubMed
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Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

https://arctichealth.org/en/permalink/ahliterature277245
Source
Clin Genet. 2016 Feb;89(2):182-6
Publication Type
Article
Date
Feb-2016
Author
K. Heimdal
B. Dalhus
O K Rødningen
M. Kroken
K. Eiklid
S. Dheyauldeen
T. Røysland
R. Andersen
M A Kulseth
Source
Clin Genet. 2016 Feb;89(2):182-6
Date
Feb-2016
Language
English
Publication Type
Article
Keywords
Activin Receptors, Type II - genetics
Antigens, CD - genetics
Cohort Studies
DNA Mutational Analysis
Family
Founder Effect
Humans
Mutation - genetics
Norway
Receptors, Cell Surface - genetics
Telangiectasia, Hereditary Hemorrhagic - genetics
Abstract
Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is an autosomal dominant inherited disease defined by the presence of epistaxis and mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in internal organs. In most families (~85%), HHT is caused by mutations in the ENG (HHT1) or the ACVRL1 (HHT2) genes. Here, we report the results of genetic testing of 113 Norwegian families with suspected or definite HHT. Variants in ENG and ACVRL1 were found in 105 families (42 ENG, 63 ACVRL1), including six novel variants of uncertain pathogenic significance. Mutation types were similar to previous reports with more missense variants in ACVRL1 and more nonsense, frameshift and splice-site mutations in ENG. Thirty-two variants were novel in this study. The preponderance of ACVRL1 mutations was due to founder mutations, specifically, c.830C>A (p.Thr277Lys), which was found in 24 families from the same geographical area of Norway. We discuss the importance of founder mutations and present a thorough evaluation of missense and splice-site variants.
PubMed ID
25970827 View in PubMed
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Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects.

https://arctichealth.org/en/permalink/ahliterature216847
Source
Atherosclerosis. 1994 Dec;111(2):175-82
Publication Type
Article
Date
Dec-1994
Author
T P Leren
K. Solberg
O K Rødningen
S. Tonstad
L. Ose
Author Affiliation
Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.
Source
Atherosclerosis. 1994 Dec;111(2):175-82
Date
Dec-1994
Language
English
Publication Type
Article
Keywords
Base Sequence
Female
Humans
Hyperlipoproteinemia Type II - diagnosis - genetics
Male
Molecular Sequence Data
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Prevalence
Receptors, LDL - genetics
Abstract
DNA from 20 unrelated familial hypercholesterolemia (FH) subjects were studied by analysis of single-strand conformation polymorphisms (SSCP) for mutations in exon 3 of the low density lipoprotein (LDL) receptor gene. Four different SSCP patterns were observed. The underlying mutations were characterized by DNA sequencing. One pattern represented the wild-type sequence. Another pattern represented a C-->G mutation (FH-Svartor) that changes codon 78 into the amber stop codon. The two other patterns represented heterozygosity and homozygosity, respectively, for a G-->A splice donor mutation (FH-Elverum) in intron 3. Based upon two PCR-based assays, the frequencies of FH-Svartor and FH-Elverum among 267 unrelated FH subjects, were 8% and 25%, respectively. FH Svartor was located on a chromosome with haplotype 3 in all five families where haplotype analysis were performed. FH Elverum was located on haplotype 2 in 16 out of 20 families. The two mutations must be considered founder mutations in the Norwegian population, and their existence will be clinically useful in diagnosing FH. The presence of two founder mutations together with previously published data on the prevalence of FH in Norway, indicate that FH may be a more common disease in Norway than previously thought.
PubMed ID
7718019 View in PubMed
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