A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant
Cyclin-dependent kinase 13 (CDK13) is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. CDK13-related disorder is a newly described genetic condition with characteristic c...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2023/3437706 |
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| _version_ | 1849307461714968576 |
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| author | Michael Gibbs Alysa Poulin Yanwei Xi Bita Hashemi |
| author_facet | Michael Gibbs Alysa Poulin Yanwei Xi Bita Hashemi |
| author_sort | Michael Gibbs |
| collection | DOAJ |
| description | Cyclin-dependent kinase 13 (CDK13) is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. CDK13-related disorder is a newly described genetic condition with characteristic clinical features including mild to severe intellectual disability, developmental delay, neonatal hypotonia, a variety of facial dysmorphism, behavioral problems, congenital heart defects, and structural brain abnormalities. We report a case of prenatal diagnosis of CDK13-related disorder. Detection of cystic hygroma with thickened nuchal fold led to prenatal genetic investigation, which identified a novel de novo likely pathogenic variant in the CDK13 gene (c.900C > G, p.Tyr300∗). Pregnancy was terminated and autopsy was performed. To our best knowledge, this is the first reported case of prenatal presentation of this condition with a detailed phenotypic description of the affected fetus. |
| format | Article |
| id | doaj-art-2201f8484ec54db794ebc6a6e41dd66e |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-2201f8484ec54db794ebc6a6e41dd66e2025-08-20T03:54:47ZengWileyCase Reports in Genetics2090-65522023-01-01202310.1155/2023/3437706A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic VariantMichael Gibbs0Alysa Poulin1Yanwei Xi2Bita Hashemi3Department of PediatricsDepartment of Pathology and Laboratory MedicineDepartment of Genomic Laboratory Pathology and Laboratory MedicineDepartment of PediatricsCyclin-dependent kinase 13 (CDK13) is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. CDK13-related disorder is a newly described genetic condition with characteristic clinical features including mild to severe intellectual disability, developmental delay, neonatal hypotonia, a variety of facial dysmorphism, behavioral problems, congenital heart defects, and structural brain abnormalities. We report a case of prenatal diagnosis of CDK13-related disorder. Detection of cystic hygroma with thickened nuchal fold led to prenatal genetic investigation, which identified a novel de novo likely pathogenic variant in the CDK13 gene (c.900C > G, p.Tyr300∗). Pregnancy was terminated and autopsy was performed. To our best knowledge, this is the first reported case of prenatal presentation of this condition with a detailed phenotypic description of the affected fetus.http://dx.doi.org/10.1155/2023/3437706 |
| spellingShingle | Michael Gibbs Alysa Poulin Yanwei Xi Bita Hashemi A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant Case Reports in Genetics |
| title | A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant |
| title_full | A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant |
| title_fullStr | A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant |
| title_full_unstemmed | A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant |
| title_short | A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant |
| title_sort | prenatal presentation of cdk13 related disorder with a novel pathogenic variant |
| url | http://dx.doi.org/10.1155/2023/3437706 |
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