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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

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

Yagi Hiroki H Takiguchi Hiroshi H Takeda Norifumi N Inuzuka Ryo R Taniguchi Yuki Y Porto Kristine Joyce KJ Ishiura Hiroyuki H Mitsui Jun J Morita Hiroyuki H Komuro Issei I

Clinical case reports 20220209 2

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. ...[more]

PMID: 35154713

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