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2023 ACMG Annual Clinical Genetics Meeting Digital ...
A Case Report of an Egyptian Family with Hyperchol ...
A Case Report of an Egyptian Family with Hypercholesterolemia Diagnosed with a Unique LINE-1 Insertion in the
LDLR
Gene
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Pdf Summary
The document describes a case study involving a patient with hypercholesterolemia. The ratios of TC/HDL and LDL/HDL were measured at different values. The analysis of the patient's genome did not find any single nucleotide variations or small insertions/deletions that could explain their symptoms. However, a homozygous insertion of a partial LINE-1 sequence was identified in exon 7 of the LDLR gene, which was found to have a significantly low depth of coverage. This variant was not detected by the GATK variant caller and was not found in a database of 24,747 exome samples. It is stated that LDLR is not commonly associated with LINE-1 insertion variants, but it is important to search for such variants as they can be missed by routine bioinformatics analysis. The document includes a figure showing the LINE-1 insertion in the proband's genome. Overall, the findings suggest that a rare LINE-1 insertion variant disrupting the coding region of the LDLR gene was identified in a patient with hypercholesterolemia. References to relevant articles are also provided.
Asset Subtitle
Presenting Author - Yongjun Song, MS; Co-Author - Reham A. Elwafa, MD; Co-Author - Omneya M. Omar, MD; Co-Author - Hane Lee, Ph.D; Co-Author - GoHun Seo, MD, PhD;
Meta Tag
Cardiovascular System
Exome sequencing
Sequencing
Variant Detection
Co-Author
Reham A. Elwafa, MD
Co-Author
Omneya M. Omar, MD
Co-Author
Hane Lee, Ph.D
Co-Author
GoHun Seo, MD, PhD
Presenting Author
Yongjun Song, MS
Keywords
hypercholesterolemia
TC/HDL ratio
LDL/HDL ratio
genome analysis
single nucleotide variations
small insertions/deletions
LDLR gene
LINE-1 insertion
depth of coverage
bioinformatics analysis
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