Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency
Abstract Here, we report a novel PROS1 splicing mutation in a patient with type I protein S deficiency. Qualitative and quantitative analysis of pathogenic splicing variants at the mRNA level was performed by long-range PCR-based targeted DNA and RNA sequencing. A base substitution in the exon 4 spl...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-07-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00286-9 |
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| _version_ | 1832594913105018880 |
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| author | Yo Niida Wataru Fujita Sumihito Togi Hiroki Ura |
| author_facet | Yo Niida Wataru Fujita Sumihito Togi Hiroki Ura |
| author_sort | Yo Niida |
| collection | DOAJ |
| description | Abstract Here, we report a novel PROS1 splicing mutation in a patient with type I protein S deficiency. Qualitative and quantitative analysis of pathogenic splicing variants at the mRNA level was performed by long-range PCR-based targeted DNA and RNA sequencing. A base substitution in the exon 4 splicing donor site activates a potential splicing donor site in intron 4, resulting in an in-frame insertion of 48 bases (16 amino acids). |
| format | Article |
| id | doaj-art-83c83de095d54daea45e2d44db4e48bd |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-07-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-83c83de095d54daea45e2d44db4e48bd2025-01-19T12:15:45ZengNature Publishing GroupHuman Genome Variation2054-345X2024-07-011111410.1038/s41439-024-00286-9Investigation of a novel PROS1 splicing variant in a patient with protein S deficiencyYo Niida0Wataru Fujita1Sumihito Togi2Hiroki Ura3Center for Clinical Genomics, Kanazawa Medical University Hospital, IshikawaDepartment of Cardiology, Kanazawa Medical University, IshikawaCenter for Clinical Genomics, Kanazawa Medical University Hospital, IshikawaCenter for Clinical Genomics, Kanazawa Medical University Hospital, IshikawaAbstract Here, we report a novel PROS1 splicing mutation in a patient with type I protein S deficiency. Qualitative and quantitative analysis of pathogenic splicing variants at the mRNA level was performed by long-range PCR-based targeted DNA and RNA sequencing. A base substitution in the exon 4 splicing donor site activates a potential splicing donor site in intron 4, resulting in an in-frame insertion of 48 bases (16 amino acids).https://doi.org/10.1038/s41439-024-00286-9 |
| spellingShingle | Yo Niida Wataru Fujita Sumihito Togi Hiroki Ura Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency Human Genome Variation |
| title | Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency |
| title_full | Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency |
| title_fullStr | Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency |
| title_full_unstemmed | Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency |
| title_short | Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency |
| title_sort | investigation of a novel pros1 splicing variant in a patient with protein s deficiency |
| url | https://doi.org/10.1038/s41439-024-00286-9 |
| work_keys_str_mv | AT yoniida investigationofanovelpros1splicingvariantinapatientwithproteinsdeficiency AT watarufujita investigationofanovelpros1splicingvariantinapatientwithproteinsdeficiency AT sumihitotogi investigationofanovelpros1splicingvariantinapatientwithproteinsdeficiency AT hirokiura investigationofanovelpros1splicingvariantinapatientwithproteinsdeficiency |