Evidence map›Paper›PMID 38433605›Full record

ArticleMolecular genetics & genomic medicine2024

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.

Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee

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PubMed Full text at PMC Publisher
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Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Yongjun Song3billion, Inc., Seoul, South Korea.
Reham Abdel Haleem Abo ElwafaDepartment of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Omneya Magdy OmarDepartment of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Go Hun Seo3billion, Inc., Seoul, South Korea.ORCID https://orcid.org/0000-0003-1518-1791
Hane Lee3billion, Inc., Seoul, South Korea.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder. Affected individuals may carry a heterozygous variant or homozygous/compound heterozygous variants and those with biallelic pathogenic variants present more severe symptoms.

methodWe report an Egyptian family with familial hypercholesterolemia. Both the proband and parents have the disorder while a sibling is unaffected. Exome sequencing was performed to identify the causal variant.

resultsLINE-1 insertion in exon 7 of LDLR was identified. Both parents have a heterozygous variant while the proband has a homozygous variant. The unaffected sibling did not carry the variant. DISCUSSION: This insertion may contribute to the high prevalence of hypercholesterolemia in Egypt and the finding underscores the importance of implementing mobile element insertion caller in routine bioinformatics pipeline.

Indexed as

HypercholesterolemiaHyperlipoproteinemia Type IIComputational BiologyEgyptExonsHumansLong Interspersed Nucleotide ElementsReceptors, LDLLDLR protein, humanReceptors, LDLexome sequencingfamilial hypercholesterolemiaLDLRmobile element insertionsrare mendelian disorders

Identifiers

PMID38433605
PMCPMC10910215

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