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

Abstract

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.

Keywords

• array‐CGH
• Beals syndrome
• camptodactyly
• copy number variation
• integrative genomics viewer