A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia
Abstract Ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. In this study, whole-exome sequencing revealed a novel, potentially pathogenic TP63 nonsense var...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-05-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-022-00186-w |
| _version_ | 1811250911722340352 |
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| author | Asuka Hori Ohsuke Migita Nobutaka Isogawa Fumio Takada Kenichiro Hata |
| author_facet | Asuka Hori Ohsuke Migita Nobutaka Isogawa Fumio Takada Kenichiro Hata |
| author_sort | Asuka Hori |
| collection | DOAJ |
| description | Abstract Ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. In this study, whole-exome sequencing revealed a novel, potentially pathogenic TP63 nonsense variant (NM_001114980.2:c.25 C > T: p.Gln9Ter) in a patient with an atypical clinical phenotype. This variant was detected near translation initiation sites and has an effect only on ΔNp63α, the short isoform protein product of the TP63 gene. |
| first_indexed | 2024-04-12T16:11:51Z |
| format | Article |
| id | doaj.art-64c1d89f51aa450e92c87367057ef47f |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-04-12T16:11:51Z |
| publishDate | 2022-05-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-64c1d89f51aa450e92c87367057ef47f2022-12-22T03:25:52ZengNature Publishing GroupHuman Genome Variation2054-345X2022-05-01911410.1038/s41439-022-00186-wA novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasiaAsuka Hori0Ohsuke Migita1Nobutaka Isogawa2Fumio Takada3Kenichiro Hata4Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical SciencesDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and DevelopmentDivision of Pedodontics/Orthodontics, Department of Surgical Specialties, National Center for Child Health and DevelopmentDepartment of Medical Genetics and Genomics, Kitasato University Graduate School of Medical SciencesDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and DevelopmentAbstract Ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. In this study, whole-exome sequencing revealed a novel, potentially pathogenic TP63 nonsense variant (NM_001114980.2:c.25 C > T: p.Gln9Ter) in a patient with an atypical clinical phenotype. This variant was detected near translation initiation sites and has an effect only on ΔNp63α, the short isoform protein product of the TP63 gene.https://doi.org/10.1038/s41439-022-00186-w |
| spellingShingle | Asuka Hori Ohsuke Migita Nobutaka Isogawa Fumio Takada Kenichiro Hata A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia Human Genome Variation |
| title | A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia |
| title_full | A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia |
| title_fullStr | A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia |
| title_full_unstemmed | A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia |
| title_short | A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia |
| title_sort | novel tp63 variant in a patient with ankyloblepharon ectodermal defect cleft lip palate syndrome and rapp hodgkin syndrome like ectodermal dysplasia |
| url | https://doi.org/10.1038/s41439-022-00186-w |
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