A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
Abstract Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and deafness. Here, we report a severe case of CSCFS w...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-02-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00265-0 |
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| author | Hiromi Nyuzuki Junichi Ozawa Keisuke Nagasaki Yosuke Nishio Tomoo Ogi Jun Tohyama Takeshi Ikeuchi |
| author_facet | Hiromi Nyuzuki Junichi Ozawa Keisuke Nagasaki Yosuke Nishio Tomoo Ogi Jun Tohyama Takeshi Ikeuchi |
| author_sort | Hiromi Nyuzuki |
| collection | DOAJ |
| description | Abstract Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and deafness. Here, we report a severe case of CSCFS with a novel variant, p.Thr187Ile, in MAP3K7. Thr187 is the main phosphorylation site for TGF-beta-activated kinase 1 encoded by MAP3K7, and this variant may cause significant abnormalities in downstream signaling. |
| format | Article |
| id | doaj-art-f2955635b18a4ecfaf06d51f79a92c9f |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-02-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-f2955635b18a4ecfaf06d51f79a92c9f2025-01-19T12:15:46ZengNature Publishing GroupHuman Genome Variation2054-345X2024-02-011111310.1038/s41439-024-00265-0A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variantHiromi Nyuzuki0Junichi Ozawa1Keisuke Nagasaki2Yosuke Nishio3Tomoo Ogi4Jun Tohyama5Takeshi Ikeuchi6Department of Pediatrics, Niigata University Medical and Dental HospitalDepartment of Pediatrics, Niigata University Medical and Dental HospitalDepartment of Pediatrics, Niigata University Medical and Dental HospitalDepartment of Pediatrics, Nagoya University Graduate School of MedicineDepartment of Genetics, Research Institute of Environmental Medicine (RIEM), Nagoya UniversityCenter for Medical Genetics, Niigata University Medical and Dental HospitalCenter for Medical Genetics, Niigata University Medical and Dental HospitalAbstract Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and deafness. Here, we report a severe case of CSCFS with a novel variant, p.Thr187Ile, in MAP3K7. Thr187 is the main phosphorylation site for TGF-beta-activated kinase 1 encoded by MAP3K7, and this variant may cause significant abnormalities in downstream signaling.https://doi.org/10.1038/s41439-024-00265-0 |
| spellingShingle | Hiromi Nyuzuki Junichi Ozawa Keisuke Nagasaki Yosuke Nishio Tomoo Ogi Jun Tohyama Takeshi Ikeuchi A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant Human Genome Variation |
| title | A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant |
| title_full | A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant |
| title_fullStr | A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant |
| title_full_unstemmed | A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant |
| title_short | A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant |
| title_sort | severe case of cardiospondylocarpofacial syndrome with a novel map3k7 variant |
| url | https://doi.org/10.1038/s41439-024-00265-0 |
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