Characteristic craniofacial defects associated with a novel USP9X truncation mutation
Abstract Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, includ...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-05-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00277-w |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832594928831561728 |
|---|---|
| author | Namiki Nagata Hiroshi Kurosaka Kotaro Higashi Masaya Yamaguchi Sayuri Yamamoto Toshihiro Inubushi Miho Nagata Yasuki Ishihara Ayumi Yonei Yohei Miyashita Yoshihiro Asano Norio Sakai Yasushi Sakata Shigetada Kawabata Takashi Yamashiro |
| author_facet | Namiki Nagata Hiroshi Kurosaka Kotaro Higashi Masaya Yamaguchi Sayuri Yamamoto Toshihiro Inubushi Miho Nagata Yasuki Ishihara Ayumi Yonei Yohei Miyashita Yoshihiro Asano Norio Sakai Yasushi Sakata Shigetada Kawabata Takashi Yamashiro |
| author_sort | Namiki Nagata |
| collection | DOAJ |
| description | Abstract Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities. |
| format | Article |
| id | doaj-art-b9393595a854481382cc04985167cc60 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-05-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-b9393595a854481382cc04985167cc602025-01-19T12:15:59ZengNature Publishing GroupHuman Genome Variation2054-345X2024-05-011111410.1038/s41439-024-00277-wCharacteristic craniofacial defects associated with a novel USP9X truncation mutationNamiki Nagata0Hiroshi Kurosaka1Kotaro Higashi2Masaya Yamaguchi3Sayuri Yamamoto4Toshihiro Inubushi5Miho Nagata6Yasuki Ishihara7Ayumi Yonei8Yohei Miyashita9Yoshihiro Asano10Norio Sakai11Yasushi Sakata12Shigetada Kawabata13Takashi Yamashiro14Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of DentistryDepartment of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of DentistryDepartment of Microbiology, Osaka University Graduate School of DentistryDepartment of Microbiology, Osaka University Graduate School of DentistryDepartment of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of DentistryDepartment of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of DentistryDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Genetic Counseling, Osaka University HospitalDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineChild Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Microbiology, Osaka University Graduate School of DentistryDepartment of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of DentistryAbstract Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities.https://doi.org/10.1038/s41439-024-00277-w |
| spellingShingle | Namiki Nagata Hiroshi Kurosaka Kotaro Higashi Masaya Yamaguchi Sayuri Yamamoto Toshihiro Inubushi Miho Nagata Yasuki Ishihara Ayumi Yonei Yohei Miyashita Yoshihiro Asano Norio Sakai Yasushi Sakata Shigetada Kawabata Takashi Yamashiro Characteristic craniofacial defects associated with a novel USP9X truncation mutation Human Genome Variation |
| title | Characteristic craniofacial defects associated with a novel USP9X truncation mutation |
| title_full | Characteristic craniofacial defects associated with a novel USP9X truncation mutation |
| title_fullStr | Characteristic craniofacial defects associated with a novel USP9X truncation mutation |
| title_full_unstemmed | Characteristic craniofacial defects associated with a novel USP9X truncation mutation |
| title_short | Characteristic craniofacial defects associated with a novel USP9X truncation mutation |
| title_sort | characteristic craniofacial defects associated with a novel usp9x truncation mutation |
| url | https://doi.org/10.1038/s41439-024-00277-w |
| work_keys_str_mv | AT namikinagata characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT hiroshikurosaka characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT kotarohigashi characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT masayayamaguchi characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT sayuriyamamoto characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT toshihiroinubushi characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT mihonagata characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT yasukiishihara characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT ayumiyonei characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT yoheimiyashita characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT yoshihiroasano characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT noriosakai characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT yasushisakata characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT shigetadakawabata characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation AT takashiyamashiro characteristiccraniofacialdefectsassociatedwithanovelusp9xtruncationmutation |