Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene.

ABSTRACT: Congenital contractural arachnodactyly (CCA) is caused by pathogenic FBN2 variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown. Here, we report on a familial case of CCA, in which a novel multiexon deletion of exons 35-39 in FBN2 was identified after simple CNV prediction.

SUBMITTER: Yagi H 

PROVIDER: S-EPMC8826123 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature