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

Hiroki Yagi,Hiroshi Takiguchi,Norifumi Takeda,Ryo Inuzuka,Yuki Taniguchi,Kristine Joyce Porto,Hiroyuki Ishiura,Jun Mitsui,Hiroyuki Morita,Issei Komuro

Clinical Case Reports（2022）

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摘要

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.

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关键词

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

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