An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

ABSTRACT: Cornelia de Lange syndrome (CdLS, OMIM #122470, #300590, #300882, #610759, and #614701) is a rare congenital disorder that affects the development of multiple organs and is characterized by physical abnormalities and cognitive and behavioral disabilities. Its molecular basis is mainly based on alterations in genes encoding structural and regulatory proteins related to the cohesin complex. Moreover, other transcriptional regulatory factors have been linked to this syndrome. However, additional causative genes are still unknown, since many patients still lack a molecular diagnosis. Herein, we describe a case with multiple affected family members presenting with an intragenic duplication in the AFF2 gene. The direct tandem intragenic duplication of exons 10, 11 and 12 was detected through hig

SUBMITTER: Lucia-Campos C 

PROVIDER: S-EPMC11563810 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature