Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
Abstract We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) and a known FLNC pathogeni...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-08-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00283-y |
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| _version_ | 1832594940888088576 |
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| author | Takeshi Imai Satomi Mitsuhashi Kenji Isahaya Soichiro Shibata Yosuke Kawai Yosuke Omae Katsushi Tokunaga NCBN Controls WGS Consortium Yoshihisa Yamano |
| author_facet | Takeshi Imai Satomi Mitsuhashi Kenji Isahaya Soichiro Shibata Yosuke Kawai Yosuke Omae Katsushi Tokunaga NCBN Controls WGS Consortium Yoshihisa Yamano |
| author_sort | Takeshi Imai |
| collection | DOAJ |
| description | Abstract We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) and a known FLNC pathogenic variant. Our results highlight the usefulness of WGS, even in the diagnosis of well-characterized genetic diseases such as WD. |
| format | Article |
| id | doaj-art-e35b5985044841eb9779c1f6ef125582 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-e35b5985044841eb9779c1f6ef1255822025-01-19T12:16:00ZengNature Publishing GroupHuman Genome Variation2054-345X2024-08-011111410.1038/s41439-024-00283-yWilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathyTakeshi Imai0Satomi Mitsuhashi1Kenji Isahaya2Soichiro Shibata3Yosuke Kawai4Yosuke Omae5Katsushi Tokunaga6NCBN Controls WGS ConsortiumYoshihisa Yamano7Department of Neurology, St Marianna University School of MedicineDepartment of Neurology, St Marianna University School of MedicineDepartment of Neurology, St Marianna University School of MedicineDepartment of Neurology, St Marianna University School of MedicineGenome Medical Science Project, National Center for Global Health and MedicineGenome Medical Science Project, National Center for Global Health and MedicineGenome Medical Science Project, National Center for Global Health and MedicineDepartment of Neurology, St Marianna University School of MedicineAbstract We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) and a known FLNC pathogenic variant. Our results highlight the usefulness of WGS, even in the diagnosis of well-characterized genetic diseases such as WD.https://doi.org/10.1038/s41439-024-00283-y |
| spellingShingle | Takeshi Imai Satomi Mitsuhashi Kenji Isahaya Soichiro Shibata Yosuke Kawai Yosuke Omae Katsushi Tokunaga NCBN Controls WGS Consortium Yoshihisa Yamano Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy Human Genome Variation |
| title | Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy |
| title_full | Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy |
| title_fullStr | Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy |
| title_full_unstemmed | Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy |
| title_short | Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy |
| title_sort | wilson disease novel atp7b variants with concomitant flnc related cardiomyopathy |
| url | https://doi.org/10.1038/s41439-024-00283-y |
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