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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Autores principales: Yagi, Hiroki, Takiguchi, Hiroshi, Takeda, Norifumi, Inuzuka, Ryo, Taniguchi, Yuki, Porto, Kristine Joyce, Ishiura, Hiroyuki, Mitsui, Jun, Morita, Hiroyuki, Komuro, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826123/
https://www.ncbi.nlm.nih.gov/pubmed/35154713
http://dx.doi.org/10.1002/ccr3.5335
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author Yagi, Hiroki
Takiguchi, Hiroshi
Takeda, Norifumi
Inuzuka, Ryo
Taniguchi, Yuki
Porto, Kristine Joyce
Ishiura, Hiroyuki
Mitsui, Jun
Morita, Hiroyuki
Komuro, Issei
author_facet Yagi, Hiroki
Takiguchi, Hiroshi
Takeda, Norifumi
Inuzuka, Ryo
Taniguchi, Yuki
Porto, Kristine Joyce
Ishiura, Hiroyuki
Mitsui, Jun
Morita, Hiroyuki
Komuro, Issei
author_sort Yagi, Hiroki
collection PubMed
description 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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spelling pubmed-88261232022-02-11 Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene Yagi, Hiroki Takiguchi, Hiroshi Takeda, Norifumi Inuzuka, Ryo Taniguchi, Yuki Porto, Kristine Joyce Ishiura, Hiroyuki Mitsui, Jun Morita, Hiroyuki Komuro, Issei Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2022-02-09 /pmc/articles/PMC8826123/ /pubmed/35154713 http://dx.doi.org/10.1002/ccr3.5335 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Yagi, Hiroki
Takiguchi, Hiroshi
Takeda, Norifumi
Inuzuka, Ryo
Taniguchi, Yuki
Porto, Kristine Joyce
Ishiura, Hiroyuki
Mitsui, Jun
Morita, Hiroyuki
Komuro, Issei
Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
title Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
title_full Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
title_fullStr Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
title_full_unstemmed Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
title_short Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
title_sort family with congenital contractural arachnodactyly due to a novel multiexon deletion of the fbn2 gene
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826123/
https://www.ncbi.nlm.nih.gov/pubmed/35154713
http://dx.doi.org/10.1002/ccr3.5335
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