De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications
Abstract Beckwith–Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele...
Saved in:
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2025-05-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-025-00316-0 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849688368818946048 |
|---|---|
| author | Yuri Moriura Yosuke Nishio Shintaro Ichimura Haruka Noda Yoshihiro Tanahashi Hikaru Yamamoto Yuka Nakazawa Taichi Oso Yoshiaki Sato Toshiki Takenouchi Shinji Saitoh Yukako Muramatsu Tomoo Ogi |
| author_facet | Yuri Moriura Yosuke Nishio Shintaro Ichimura Haruka Noda Yoshihiro Tanahashi Hikaru Yamamoto Yuka Nakazawa Taichi Oso Yoshiaki Sato Toshiki Takenouchi Shinji Saitoh Yukako Muramatsu Tomoo Ogi |
| author_sort | Yuri Moriura |
| collection | DOAJ |
| description | Abstract Beckwith–Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele and excluded other genetic etiologies. These findings not only expand the BWSp concept but also highlight the potential value of allelic origin analysis in cases with atypical presentations. |
| format | Article |
| id | doaj-art-98114c409ebf4d71b2f659f2a33e0d87 |
| institution | DOAJ |
| issn | 2054-345X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-98114c409ebf4d71b2f659f2a33e0d872025-08-20T03:22:01ZengNature Publishing GroupHuman Genome Variation2054-345X2025-05-011211310.1038/s41439-025-00316-0De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complicationsYuri Moriura0Yosuke Nishio1Shintaro Ichimura2Haruka Noda3Yoshihiro Tanahashi4Hikaru Yamamoto5Yuka Nakazawa6Taichi Oso7Yoshiaki Sato8Toshiki Takenouchi9Shinji Saitoh10Yukako Muramatsu11Tomoo Ogi12Department of Pediatrics, Nagoya University Graduate School of MedicineDepartment of Pediatrics, Nagoya University Graduate School of MedicineDivision of Neonatology, Center for Maternal-Neonatal Care, Nagoya University HospitalDivision of Neonatology, Center for Maternal-Neonatal Care, Nagoya University HospitalDepartment of Pediatrics, TOYOTA Memorial HospitalDepartment of Pediatrics, TOYOTA Memorial HospitalDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya UniversityDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya UniversityDivision of Neonatology, Center for Maternal-Neonatal Care, Nagoya University HospitalDepartment of Pediatrics, Keio University School of MedicineDepartment of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical SciencesDepartment of Pediatrics, Nagoya University Graduate School of MedicineDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya UniversityAbstract Beckwith–Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele and excluded other genetic etiologies. These findings not only expand the BWSp concept but also highlight the potential value of allelic origin analysis in cases with atypical presentations.https://doi.org/10.1038/s41439-025-00316-0 |
| spellingShingle | Yuri Moriura Yosuke Nishio Shintaro Ichimura Haruka Noda Yoshihiro Tanahashi Hikaru Yamamoto Yuka Nakazawa Taichi Oso Yoshiaki Sato Toshiki Takenouchi Shinji Saitoh Yukako Muramatsu Tomoo Ogi De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications Human Genome Variation |
| title | De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications |
| title_full | De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications |
| title_fullStr | De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications |
| title_full_unstemmed | De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications |
| title_short | De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications |
| title_sort | de novo cdkn1c variant in beckwith wiedermann spectrum with atypical complications |
| url | https://doi.org/10.1038/s41439-025-00316-0 |
| work_keys_str_mv | AT yurimoriura denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT yosukenishio denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT shintaroichimura denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT harukanoda denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT yoshihirotanahashi denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT hikaruyamamoto denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT yukanakazawa denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT taichioso denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT yoshiakisato denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT toshikitakenouchi denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT shinjisaitoh denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT yukakomuramatsu denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications AT tomooogi denovocdkn1cvariantinbeckwithwiedermannspectrumwithatypicalcomplications |