A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
Coffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnormalities. A team from Japan led by Takanobu Otomo of...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2022-07-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-022-00203-y |
| _version_ | 1811222942198005760 |
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| author | Viktoriia Sofronova Yu Fukushima Mitsuo Masuno Mami Naka Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Takahito Moriwaki Rina Iwata Seigo Terawaki Yasuko Yamanouchi Takanobu Otomo |
| author_facet | Viktoriia Sofronova Yu Fukushima Mitsuo Masuno Mami Naka Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Takahito Moriwaki Rina Iwata Seigo Terawaki Yasuko Yamanouchi Takanobu Otomo |
| author_sort | Viktoriia Sofronova |
| collection | DOAJ |
| description | Coffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnormalities. A team from Japan led by Takanobu Otomo of Kawasaki Medical School in Kurashiki performed genetic sequencing on a young boy who showed many hallmark features of CSS. The researchers identified a previously undescribed mutation in ARID1B, a gene previously linked to the disease. The mutation introduced a premature stop signal into the ARID1B gene transcript. The boy’s cells responded to the genetic defect by activating two kinds of RNA surveillance mechanisms: one that helped eliminate the faulty transcript, and another designed to alter splicing patterns. The findings could help the medical community diagnosis other cases of CSS and ultimately find treatments. |
| first_indexed | 2024-04-12T08:24:45Z |
| format | Article |
| id | doaj.art-b4113a2a404e4759b2900d95661efd41 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-04-12T08:24:45Z |
| publishDate | 2022-07-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-b4113a2a404e4759b2900d95661efd412022-12-22T03:40:27ZengNature Publishing GroupHuman Genome Variation2054-345X2022-07-01911610.1038/s41439-022-00203-yA novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndromeViktoriia Sofronova0Yu Fukushima1Mitsuo Masuno2Mami Naka3Miho Nagata4Yasuki Ishihara5Yohei Miyashita6Yoshihiro Asano7Takahito Moriwaki8Rina Iwata9Seigo Terawaki10Yasuko Yamanouchi11Takanobu Otomo12Department of Molecular and Genetic Medicine, Kawasaki Medical SchoolDivision of Neonatology, National Hospital Organization Okayama Medical CenterDepartment of Medical Genetics, Kawasaki Medical School HospitalGenetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical WelfareDepartment of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of MedicineDepartment of Molecular and Genetic Medicine, Kawasaki Medical SchoolDepartment of Molecular and Genetic Medicine, Kawasaki Medical SchoolDepartment of Molecular and Genetic Medicine, Kawasaki Medical SchoolDepartment of Medical Genetics, Kawasaki Medical School HospitalDepartment of Molecular and Genetic Medicine, Kawasaki Medical SchoolCoffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnormalities. A team from Japan led by Takanobu Otomo of Kawasaki Medical School in Kurashiki performed genetic sequencing on a young boy who showed many hallmark features of CSS. The researchers identified a previously undescribed mutation in ARID1B, a gene previously linked to the disease. The mutation introduced a premature stop signal into the ARID1B gene transcript. The boy’s cells responded to the genetic defect by activating two kinds of RNA surveillance mechanisms: one that helped eliminate the faulty transcript, and another designed to alter splicing patterns. The findings could help the medical community diagnosis other cases of CSS and ultimately find treatments.https://doi.org/10.1038/s41439-022-00203-y |
| spellingShingle | Viktoriia Sofronova Yu Fukushima Mitsuo Masuno Mami Naka Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Takahito Moriwaki Rina Iwata Seigo Terawaki Yasuko Yamanouchi Takanobu Otomo A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome Human Genome Variation |
| title | A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome |
| title_full | A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome |
| title_fullStr | A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome |
| title_full_unstemmed | A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome |
| title_short | A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome |
| title_sort | novel nonsense variant in arid1b causing simultaneous rna decay and exon skipping is associated with coffin siris syndrome |
| url | https://doi.org/10.1038/s41439-022-00203-y |
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