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

We 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 ofLDLR was identified. Both parents have a heterozygous variant while the proband has a homozygous variant. The unaffected sibling did not carry the variant.DiscussionThis 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.

Source: Molecular Genetics & Genomic Medicine - March 4, 2024 Category: Genetics & Stem Cells Authors: Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee Tags: CLINICAL REPORT Source Type: research