Mutations in the LDLR Gene: Causes & Reasons

Possible Causes for Mutations in the LDLR Gene

BACKGROUND: Familial Hypercholesterolemia (FH), the most common form of autosomal co-dominant hypercholesterolemia, is due to mutations in the LDLR gene, mostly minute or [ncbi.nlm.nih.gov]

A more reliable diagnosis of FCH is based on the identification of the underlying mutation of the LDLR gene. [symptoma.com]

[…] in the LDLR gene. [ncbi.nlm.nih.gov]

Heterozygous Familial Hypercholesterolemia

Familial hypercholesterolemia is caused by mutations of the LDLR gene. [symptoma.com]

Lawrence River. 26 Five mutations in the LDLR gene account for 76% of FH cases. 26 One of those mutations, a >10 kb deletion at 5' end of the gene involving the promoter and [acc.org]

Over 1200 different types of mutations were described in the LDLR gene [10]. [bmcpediatr.biomedcentral.com]

Hypercholesterolemia

Mutations in the APOB, LDLR, LDLRAP1, and PCSK9 genes cause hypercholesterolemia. [ghr.nlm.nih.gov]

As a result, people with mutations in the LDLR gene have very high levels of blood cholesterol. [ghr.nlm.nih.gov]

Rarely, a person with familial hypercholesterolemia is born with two mutated copies of the LDLR gene. [ghr.nlm.nih.gov]

Familial Hypercholesterolemia

[…] in the LDLR gene. [ncbi.nlm.nih.gov]

However, the spectrum of mutations in the LDLR gene in Sri Lankan patients has not been investigated. [ncbi.nlm.nih.gov]

METHODS: A total of 146 heterozygous familial hypercholesterolemic (FH) patients with a mutation in LDLR gene were screened for genes encoding proprotein convertase subtilisin [ncbi.nlm.nih.gov]

Homozygous Familial Hypercholesterolemia

Their phenotypic homozygosity was established by identification of known LDLR gene mutations on both alleles, respectively: p.G592E & p.G592E in Patient 1; p.G592E & p.C667Y [ncbi.nlm.nih.gov]

FH is commonly caused by mutations in three genes, i.e. LDL receptor (LDLR), apolipoprotein B (ApoB) and PCSK9. [ncbi.nlm.nih.gov]

The majority of these cases have familial hypercholesterolemia (FH), which is due to mutations in the LDLR gene, which encodes for the LDL receptor. [checkorphan.org]

Familial Hypercholesterolemia Type 2

There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases. [genome.jp]

More than 700 different mutations in the LDLR gene have been found in FH (see UMD-LDLR Database page for listings). [themedicalbiochemistrypage.org]

IIa is linked with mutations in the LDL receptor (LDLR) or genes that regulate the LDL uptake. [wikipathways.org]

Familial Hyperlipidemia

The most common autosomal dominant form of hypercholesterolemia is caused by mutation in the LDL receptor gene (LDLR) on chromosome 19. [medicinenet.com]

Familial hypercholesterolemia results from mutation of the LDLR (low-density lipoprotein receptor) gene. [britannica.com]

Currently 1,741 mutations have been identified in the exons of the LDLR gene. [jbiomedsci.biomedcentral.com]

Familial Combined Hyperlipidemia

METHODS AND RESULTS: Twenty SNPs in lipid-related genes were studied in 142 control subjects and 165 FCH patients after excluding patients with mutations in the LDLR gene [ncbi.nlm.nih.gov]

OBJECTIVES: The purpose of this study was to determine the frequency of mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes in consecutive [ncbi.nlm.nih.gov]

The aim of this study was to identify single nucleotides (SNPs) in lipid-related genes associated with FCH. [ncbi.nlm.nih.gov]

Hyperlipoproteinemia Type 5

There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases. [genome.jp]

LDLR to vesicular uptake of lipoproteins N00335 Mutation-inactivated LDLRAP1 to vesicular uptake of lipoproteins N00337 Mutation-activated PCSK9 to PCSK9-mediated LDLR degradation [genome.jp]

[…] in LDLR, apoB or PCSK9 genes (figure 2).2 Figure 2. [bjcardio.co.uk]

Autosomal Dominant Coronary Artery Disease Type 2

Most common genetic defects in FH are LDLR mutations. Homosygotic mutation of LDLR gene may cause severe cardiovascular disease in childhood. [quizlet.com]

"Molecular genetics of the LDLR gene in familial hypercholesterolemia". Hum. Mutat. 1 (6): 445–66. doi : 10.1002/humu.1380010602. [en.wikipedia.org]

For example, mutations in the LDL receptor gene ( LDLR ), the ligand-binding domain of apolipoprotein B100 ( APOB ), and proprotein convertase subtilisin/kexin type 9 gene [nature.com]

Latham-Munro Syndrome

Marianne Sakr ABI FADEL, 01/01/2013 4 pages Du clonage à la déshumanisation André Edmond MEGARBANE, 01/01/1997 3 pages Effect of mutations in LDLR and PCSK9 genes on phenotypic [usj.edu.lb]

André Edmond MEGARBANE, 05/01/2003 The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene Georges [usj.edu.lb]

JAMBART, 01/07/2009 11 pages The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene Marianne Sakr [usj.edu.lb]

Hyperlipoproteinemia Type 3

There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases. [genome.jp]

[…] in LDLR, apoB or PCSK9 genes (figure 2).2 Figure 2. [bjcardio.co.uk]

FH most often results from mutations in the LDLR gene, which encodes the LDL receptor [ 2, 9 ]. [mdpi.com]

Hyperlipoproteinemia Type 1

There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases. [genome.jp]

[…] in the LDL receptor (LDLR) gene on chromosome 19p. [medicine.academic.ru]

LDLR to vesicular uptake of lipoproteins N00335 Mutation-inactivated LDLRAP1 to vesicular uptake of lipoproteins N00337 Mutation-activated PCSK9 to PCSK9-mediated LDLR degradation [genome.jp]

Xanthomatosis, Susceptibility to

[…] in the LDL receptor ( LDLR ) gene on chromosome 19p. [medical-dictionary.thefreedictionary.com]

[…] characterized by elevated LDL but normal triglycerides and is due to a deficiency of the LDL receptor, a defect of the receptor or a modified LDL-apolipoprotein B-100, caused by mutation [medical-dictionary.thefreedictionary.com]

Autosomal Recessive Spastic Paraplegia Type 20

One member presented a picture of right-sited optic neuropathy associated with a c.220C>G mutation in the ACO2 gene and a heterozygous c.185C>T mutation in the LDLR gene. [thieme-connect.com]

[…] mutations in MT-ND1 (m.4216T>C) and MT-CO3 genes (m.9804G>A) were confirmed in two families (each one subject, three eyes affected), without detection of a primary LHON mutation [thieme-connect.com]

[…] dominant optic atrophy was confirmed in three non-related families (five subjects with bilateral ION), where molecular genetic analyses confirmed four different heterozygous mutations [thieme-connect.com]

Combined Hyperlipidemia

Compared with patients who had a normal LDLR gene, patients with mutations had lower waist circumference (p = 0.02); significantly (p < 0.005) higher total cholesterol, non-high-density [ncbi.nlm.nih.gov]

RESULTS: Mutations of LDLR were found in 28 patients (overall prevalence, 19.6%). No APOB defects were found. [ncbi.nlm.nih.gov]

Hyperlipoproteinemia Type 1C

[…] effect of mutations in LDLR and PCSK9 genes on the phenotyoe of familial hypercholesterolemia Articolo su rivista Go to 2006 Six novel mutations of the LDL receptor gene [unipa.it]

The most common genetic abnormality involves one of the possible 1,600 different mutations in low-density lipoprotein receptor (LDLR) gene. 5 Other genetic defects include [acc.org]

Articolo su rivista Go to 2005 ADDITIVE EFFECT OF MUTATIONS IN LDLR AND PCSK9 GENES ON THE PHENOTYPE OF FAMILIAL HYPERCHOLESTEROLEMIA. [unipa.it]

Autosomal Recessive Dyskeratosis Congenita Type 5

This happens when both parents have Familial Hypercholesterolemia, LDLR-Related (one LDLR gene mutation) and each passes their LDLR gene mutation to their child. [natera.com]

[…] at much younger ages than those with only one LDLR gene mutation. [natera.com]

Rarely, a child can inherit mutations in both copies of the LDLR gene pair. [natera.com]

Familial Cylindromatosis

The most common autosomal dominant form of hypercholesterolemia is caused by mutation in the LDL receptor gene (LDLR) on chromosome […] Familial hypertrophic cardiomyopathy [definithing.com]

Xanthoma Disseminatum

[…] of cholesterol in the blood due to mutations in the LDLR gene. [findzebra.com]

Description Vergopoulos et al. (1997) studied a consanguineous Syrian kindred containing 6 individuals homozygous for a cys646-to-arg mutation in the LDLR gene (606945) resulting [findzebra.com]

In individuals with the LDLR mutation IVS14+1G-A (606945.0063), the phenotype can be altered by a SNP in the APOA2 gene (107670.0002), a SNP in the EPHX2 gene (132811.0001 [findzebra.com]

Hyperlipoproteinemia Type 4

IIa is linked with mutations in the LDL receptor (LDLR) or genes that regulate the LDL uptake. [wikipathways.org]

FH most often results from mutations in the LDLR gene, which encodes the LDL receptor [ 2, 9 ]. [mdpi.com]

The most common genetic abnormality involves one of the possible 1,600 different mutations in low-density lipoprotein receptor (LDLR) gene. 5 Other genetic defects include [acc.org]

Cholesterol Ester Storage Disease

The lipid phenotype observed in patients with DLAL is similar to that of other diseases, such as heterozygous familial hypercholesterolemia caused by mutations of the LDLR [imedpub.com]

[…] was identified in one of the well-annotated genes for either autosomal dominant or recessive hypercholesterolaemia, (LDLR, APOB, PCSK9 and LDLRAP). [njmonline.nl]

gene mutations) were collected. [journals.lww.com]

Hyperlipoproteinemia

There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases. [genome.jp]

Hyperlipoproteinemia type IIa is an autosomal dominant disorder caused by mutations in the LDL receptor. [genome.jp]

The LDL receptor gene consists of a number of distinct functional domains such as signal sequence, ligand binding, and so on. [genome.jp]

Hypoalphalipoproteinemia

Abstract Familial hypercholesterolemia (FH), a disease caused by a variety of mutations in the low density lipoprotein receptor (LDLr) gene, leads not only to elevated LDL-cholesterol [ncbi.nlm.nih.gov]

Chylomicronemia Syndrome

Mutations in the LDLR gene that codifies the LDL-c receptor is one the best characterized genetic defects causing dyslipidemia. [f1000research.com]

[…] familial amyloid mutations familial dementia mutations familial inherited mutations familial alzheimer's disease mutations ldlr mutations familial hypercholesterolemia familial [web.shadidphotography.com]

This autosomal dominant defect, also known as familial APO B-100 dysfunction, comes from mutations in APO B-100 gene, in the short arm of chromosome 2 34. [f1000research.com]

Tangier Disease

Familial Hypercholesterolemia (FH) is a monogenic disorder due to mutations of LDLR gene. [eprints.unife.it]

Heterozygous mutations of ABCA1 gene cause Familial HDL Deficiency (FHD), characterized by half normal level of HDL-C and increased CAD risk. [eprints.unife.it]

Osteoporosis-Pseudoglioma Syndrome

LRP5 22 2006 A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. [allie.dbcls.jp]

BMD, LDLR, LRP5 23 2006 Effects of 3 years of intravenous pamidronate treatment on bone markers and bone mineral density in a patient with osteoporosis-pseudoglioma syndrome [allie.dbcls.jp]

BMD, LRP5 20 2008 Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation. [allie.dbcls.jp]

Autosomal Dominant Coronary Artery Disease 1

Genetic and biochemical risk factors Genetic mutations that severely impair the function of LDLR (null allele LDLR mutations) are associated with more advanced degree of CHD [heart.bmj.com]

Approximately 1 out of every 500 people in the United States, or an estimated 600,000, has FH due to a mutation in the LDL receptor (LDLR), apolipoprotein B (APOB) or other [cdc.gov]

[…] in the genes coding for low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB 100), Adenosine triphosphate (ATP) binding cassette transporters (ABCG5 and ABCG8 [jpgmonline.com]

Hyperlipidemia

[…] in the apolipoprotein (apo) B gene, which reduces binding of LDL particles to the LDLR.14,15 Of the 3 types of genetic mutations listed above, the majority of individuals [ajmc.com]

[…] in the apolipoprotein (apo) B gene, which reduces binding of LDL particles to the LDLR. 14,15 Of the 3 types of genetic mutations listed above, the majority of individuals [ajmc.com]

[…] in the LDL receptor ( LDLR ) gene (NCBI Entrez Gene 3949 ) that causes severe elevations in levels of LDL-C, resulting in early atherosclerotic lesions. [jamanetwork.com]

Laron Syndrome

[…] in the LDLR gene. [uniprot.org]

[…] receptor GHR 85 Annotation score: Polymorphism i Genetic variation in GHR may act as phenotype modifier in familial hypercholesterolemia [ MIM i : 143890 ] patients carrying a mutation [uniprot.org]