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

ABSTRACT: 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 affecting non-coding regulatory regions. There are increasing reports of apparently sporadic and inherited genetic disorders caused by Alu-related gene disruption, but Marfan syndrome resulting from Alu element insertion has not been previously described. We report a family with classic features of Marfan syndrome whose previous FBN1 genetic testing was inconclusive. Using contemporar

SUBMITTER: Helm BM 

PROVIDER: S-EPMC11670311 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature