A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia
Abstract Asymptomatic hyper-CK-emia (ASCK) is characterized by persistent elevation of creatine kinase (CK) in serum without any neurological symptoms. We ascertained a two-generation family of ASCK patients without clear neurological abnormalities except for the high levels of serum CK (810.5 ± 522...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-022-00182-0 |
| _version_ | 1819280451421863936 |
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| author | Luoming Fan Shiroh Miura Tomofumi Shimojo Hirotoshi Sugino Ryuta Fujioka Hiroki Shibata |
| author_facet | Luoming Fan Shiroh Miura Tomofumi Shimojo Hirotoshi Sugino Ryuta Fujioka Hiroki Shibata |
| author_sort | Luoming Fan |
| collection | DOAJ |
| description | Abstract Asymptomatic hyper-CK-emia (ASCK) is characterized by persistent elevation of creatine kinase (CK) in serum without any neurological symptoms. We ascertained a two-generation family of ASCK patients without clear neurological abnormalities except for the high levels of serum CK (810.5 ± 522.4 U/L). We identified a novel 1-bp deletion variant in the DAG1 gene shared by the patients in the family (NM_001177639: exon 3: c.930delC:p.R311Gfs*70). The variant causes premature termination of translation at codon 477, resulting in a protein product completely devoid of the essential DAG1 domain. Since ASCK has been associated with DAG1 in only one case carrying compound heterozygous missense variants, our new finding of a novel 1-bp deletion revealed the previously unknown dominant effect of DAG1 on ASCK. |
| first_indexed | 2024-12-24T00:44:00Z |
| format | Article |
| id | doaj.art-10cfb46a38294fa2bbfabe4f4ae40c04 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-12-24T00:44:00Z |
| publishDate | 2022-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-10cfb46a38294fa2bbfabe4f4ae40c042022-12-21T17:23:51ZengNature Publishing GroupHuman Genome Variation2054-345X2022-01-01911310.1038/s41439-022-00182-0A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emiaLuoming Fan0Shiroh Miura1Tomofumi Shimojo2Hirotoshi Sugino3Ryuta Fujioka4Hiroki Shibata5Division of Genomics, Medical Institute of Bioregulation, Kyushu UniversityDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of MedicineDivision of Genomics, Medical Institute of Bioregulation, Kyushu UniversitySugino Pediatric ClinicDepartment of Food and Nutrition, Beppu University Junior CollegeDivision of Genomics, Medical Institute of Bioregulation, Kyushu UniversityAbstract Asymptomatic hyper-CK-emia (ASCK) is characterized by persistent elevation of creatine kinase (CK) in serum without any neurological symptoms. We ascertained a two-generation family of ASCK patients without clear neurological abnormalities except for the high levels of serum CK (810.5 ± 522.4 U/L). We identified a novel 1-bp deletion variant in the DAG1 gene shared by the patients in the family (NM_001177639: exon 3: c.930delC:p.R311Gfs*70). The variant causes premature termination of translation at codon 477, resulting in a protein product completely devoid of the essential DAG1 domain. Since ASCK has been associated with DAG1 in only one case carrying compound heterozygous missense variants, our new finding of a novel 1-bp deletion revealed the previously unknown dominant effect of DAG1 on ASCK.https://doi.org/10.1038/s41439-022-00182-0 |
| spellingShingle | Luoming Fan Shiroh Miura Tomofumi Shimojo Hirotoshi Sugino Ryuta Fujioka Hiroki Shibata A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia Human Genome Variation |
| title | A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia |
| title_full | A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia |
| title_fullStr | A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia |
| title_full_unstemmed | A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia |
| title_short | A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia |
| title_sort | novel 1 bp deletion variant in dag1 in japanese familial asymptomatic hyper ck emia |
| url | https://doi.org/10.1038/s41439-022-00182-0 |
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