A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
Abstract We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced th...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00263-2 |
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| _version_ | 1832594878059511808 |
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| author | Ivan Šubrt Tomáš Zavoral Lukáš Strych Monika Černá Markéta Hejnalová Pavla Komrsková Jitka Tejcová |
| author_facet | Ivan Šubrt Tomáš Zavoral Lukáš Strych Monika Černá Markéta Hejnalová Pavla Komrsková Jitka Tejcová |
| author_sort | Ivan Šubrt |
| collection | DOAJ |
| description | Abstract We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced the RNA analysis, we were able to reclassify this variant as likely pathogenic. Our results stress the importance of not excluding synonymous variants during prioritization. |
| format | Article |
| id | doaj-art-0477920311324cb1b6923674509fc056 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-0477920311324cb1b6923674509fc0562025-01-19T12:15:34ZengNature Publishing GroupHuman Genome Variation2054-345X2024-01-011111410.1038/s41439-024-00263-2A recurrent synonymous L1CAM variant in a fetus with hydrocephalusIvan Šubrt0Tomáš Zavoral1Lukáš Strych2Monika Černá3Markéta Hejnalová4Pavla Komrsková5Jitka Tejcová6Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital PilsenDepartment of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital PilsenDepartment of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital PilsenDepartment of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital PilsenDepartment of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital PilsenDepartment of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital PilsenDepartment of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital PilsenAbstract We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced the RNA analysis, we were able to reclassify this variant as likely pathogenic. Our results stress the importance of not excluding synonymous variants during prioritization.https://doi.org/10.1038/s41439-024-00263-2 |
| spellingShingle | Ivan Šubrt Tomáš Zavoral Lukáš Strych Monika Černá Markéta Hejnalová Pavla Komrsková Jitka Tejcová A recurrent synonymous L1CAM variant in a fetus with hydrocephalus Human Genome Variation |
| title | A recurrent synonymous L1CAM variant in a fetus with hydrocephalus |
| title_full | A recurrent synonymous L1CAM variant in a fetus with hydrocephalus |
| title_fullStr | A recurrent synonymous L1CAM variant in a fetus with hydrocephalus |
| title_full_unstemmed | A recurrent synonymous L1CAM variant in a fetus with hydrocephalus |
| title_short | A recurrent synonymous L1CAM variant in a fetus with hydrocephalus |
| title_sort | recurrent synonymous l1cam variant in a fetus with hydrocephalus |
| url | https://doi.org/10.1038/s41439-024-00263-2 |
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