A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR
Abstract Background Familial 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 heterozygou...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-03-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2410 |
| _version_ | 1797242614660988928 |
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| author | Yongjun Song Reham Abdel Haleem Abo Elwafa Omneya Magdy Omar Go Hun Seo Hane Lee |
| author_facet | Yongjun Song Reham Abdel Haleem Abo Elwafa Omneya Magdy Omar Go Hun Seo Hane Lee |
| author_sort | Yongjun Song |
| collection | DOAJ |
| description | Abstract Background Familial 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. Method 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. Results LINE‐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. |
| first_indexed | 2024-04-24T18:42:01Z |
| format | Article |
| id | doaj.art-6a7477e0eda544abb134fe80cbc0d97a |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-24T18:42:01Z |
| publishDate | 2024-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-6a7477e0eda544abb134fe80cbc0d97a2024-03-27T10:47:28ZengWileyMolecular Genetics & Genomic Medicine2324-92692024-03-01123n/an/a10.1002/mgg3.2410A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLRYongjun Song0Reham Abdel Haleem Abo Elwafa1Omneya Magdy Omar2Go Hun Seo3Hane Lee43billion, Inc. Seoul South KoreaDepartment of Clinical Pathology, Faculty of Medicine Alexandria University Alexandria EgyptDepartment of Pediatrics, Faculty of Medicine Alexandria University Alexandria Egypt3billion, Inc. Seoul South Korea3billion, Inc. Seoul South KoreaAbstract Background Familial 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. Method 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. Results LINE‐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.https://doi.org/10.1002/mgg3.2410exome sequencingfamilial hypercholesterolemiaLDLRmobile element insertionsrare mendelian disorders |
| spellingShingle | Yongjun Song Reham Abdel Haleem Abo Elwafa Omneya Magdy Omar Go Hun Seo Hane Lee A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR Molecular Genetics & Genomic Medicine exome sequencing familial hypercholesterolemia LDLR mobile element insertions rare mendelian disorders |
| title | A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR |
| title_full | A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR |
| title_fullStr | A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR |
| title_full_unstemmed | A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR |
| title_short | A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR |
| title_sort | case report of an egyptian family with familial hypercholesterolemia and an exonic line 1 insertion in ldlr |
| topic | exome sequencing familial hypercholesterolemia LDLR mobile element insertions rare mendelian disorders |
| url | https://doi.org/10.1002/mgg3.2410 |
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