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Article

Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome.

European journal of medical genetics - 1 Jul 2023

Helm Benjamin M, Smith Amanda M, Schmit Kelly, Landis Benjamin J, Vatta Matteo, Ware Stephanie M

Abstract excerpt

Alu elements are retrotransposons with ubiquitous presence in the human genome that have contributed to human genomic diversity and health. These approximately 300-bp sequences can cause or mediate disease by disrupting coding/splicing regions in the germline, by insertional mutagenesis in somatic cells, and in promoting formation of copy-number variants. Alu elements may also disrupt epigenetic regulation by...

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Identifiers

PMID: 37264881
DOI: 10.1016/j.ejmg.2023.104775
PMCID: PMC11670311

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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