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Report for Mutation R3500Q

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Development of a new MS-based biomarker for the early and sensitive diagnosis of Homozygous familial Hypercholesterolemia from blood

NCT03198897 Lipoprotein Lipase Deficiency Inborn Error of Lipid Metabolism Corneal Arcus
MeSH: Arcus Senilis Hyperlipoproteinemia Type II Hyperlipoproteinemia Type I Lipid Metabolism, Inborn Errors Hypercholesterolemia
HPO: Corneal arcus Hypercholesterolemia Increased LDL cholesterol concentration

FH is often associated with the mutation of R3500Q, which causes replacement of arginine by glutamine at position 3500. --- R3500Q ---

Primary Outcomes

Description: Next-Generation Sequencing (NGS) of the following genes: LDLR, APoB, PCSK9 and LDLRAP1 will be performed. The mutation will be confirmed by Sanger sequencing.

Measure: Sequencing of the Homozygous Familial Hypercholesterolemia disease related genes

Time: 4 weeks

Secondary Outcomes

Description: The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

Measure: The Homozygous familial Hypercholesterolemia specific biomarker candidates finding

Time: 24 months


HPO Nodes


Hypercholesterolemia
Genes 65
TTPA LDLR LDLRAP1 LDLR SLC7A7 CYP7A1 APOE APOB JAG1 CAV1 DEAF1 CCDC115 ABCG8 TDP1 RAI1 COG4 GHR NUP107 APOA2 CAV1 CAV3 NUP107 GHR OCRL IQSEC2 LPL CETP MEF2A APOB SLC25A13 PPP1R17 LRP6 ABCG8 APTX LPL CYP27A1 CEP19 PHKA2 LIPA LDLRAP1 FLII TMEM199 RAI1 TDP1 PIK3R5 RSPO1 PHKG2 LIPA ALB OCRL SETX PHKA2 EPHX2 LMNA RAI1 DYRK1B APOC3 LMNA PCSK9 SLC25A13 PCSK9 PYGL SLC25A13 ABCG5 DGAT1
Corneal arcus
Genes 11
LDLR ALDH18A1 PPP1R17 CHRDL1 KERA APOE SLC29A3 EPHX2 GHR APOA2 APOB
Increased LDL cholesterol concentration
Genes 26
TTPA EMD SMPD1 LMNA LDLRAP1 LDLR TMEM199 SLC7A7 CYP7A1 TMEM43 APOE APOB SYNE1 CCDC115 LCAT ABCG8 LMNA FHL1 SYNE2 SMPD1 LMNA SLC25A13 PCSK9 LPL CEP19 ABCG5