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

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...

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Veröffentlicht in:	Clinical Case Reports 2022-02, Vol.10 (2), p.e05335-n/a
Hauptverfasser:	Yagi, Hiroki, Takiguchi, Hiroshi, Takeda, Norifumi, Inuzuka, Ryo, Taniguchi, Yuki, Porto, Kristine Joyce, Ishiura, Hiroyuki, Mitsui, Jun, Morita, Hiroyuki, Komuro, Issei
Format:	Artikel
Sprache:	eng
Schlagworte:	array‐CGH Beals syndrome camptodactyly Case Report Case Reports Congenital diseases Connective tissue copy number variation Extracellular matrix Genes Genetic aspects Genetic disorders Genomics Habitus integrative genomics viewer Marfan syndrome Mitral valve prolapse Patients Proteins Respiratory distress syndrome Scoliosis Software
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Zusammenfassung:	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. 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.
ISSN:	2050-0904 2050-0904
DOI:	10.1002/ccr3.5335