EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay
We present the findings of a Whole Exome Sequencing in a 2-year-old boy, conceived via In Vitro Fertilization with donor sperm, who suffers from an undiagnosed neurological syndrome. The following heterozygous variant in the EPHA4 gene was identified and classified as likely pathogenic: c.1655_1656,...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2024-03-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2023-0019 |
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| author | Sleptsova M Georgiev C Atemin S Dimova P Avdjieva-Tzavella D Tacheva G Litvinenko I Grozdanova L Todorov T Mitev V Todorova A |
| author_facet | Sleptsova M Georgiev C Atemin S Dimova P Avdjieva-Tzavella D Tacheva G Litvinenko I Grozdanova L Todorov T Mitev V Todorova A |
| author_sort | Sleptsova M |
| collection | DOAJ |
| description | We present the findings of a Whole Exome Sequencing in a 2-year-old boy, conceived via In Vitro Fertilization with donor sperm, who suffers from an undiagnosed neurological syndrome. The following heterozygous variant in the EPHA4 gene was identified and classified as likely pathogenic: c.1655_1656, p.(Ser552CysfsTer23). Subsequent segregation analysis showed that the variant was not inherited from the mother and the sperm donor is not accessible for genetic testing. The presented results can further expand upon the genetic variants considered when diagnosing complex neurological syndromes and shows the importance of access to biological samples from donor banks in genetically ambiguous cases. |
| first_indexed | 2024-04-24T19:13:12Z |
| format | Article |
| id | doaj.art-803898290e104d83b60c1ceb8311e0c3 |
| institution | Directory Open Access Journal |
| issn | 2199-5761 |
| language | English |
| last_indexed | 2024-04-24T19:13:12Z |
| publishDate | 2024-03-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-803898290e104d83b60c1ceb8311e0c32024-03-26T09:02:28ZengSciendoBalkan Journal of Medical Genetics2199-57612024-03-01262656810.2478/bjmg-2023-0019EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental DelaySleptsova M0Georgiev C1Atemin S2Dimova P3Avdjieva-Tzavella D4Tacheva G5Litvinenko I6Grozdanova L7Todorov T8Mitev V9Todorova A10Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, BulgariaULB Neuroscience Institute, Université libre de Bruxelles (ULB), Brussels, BelgiumGenetic Medico-Diagnostic Laboratory “Genica”, Sofia, BulgariaSt. Ivan Rilski University Hospital, Sofia, BulgariaDepartment of Clinical Genetics, University Pediatric Hospital, Sofia, BulgariaDepartment of Pediatrics, Medical University of Sofia, Sofia, BulgariaDepartment of Pediatrics, Medical University of Sofia, Sofia, BulgariaGenetic Medico-Diagnostic Laboratory “Genica”, Sofia, BulgariaGenetic Medico-Diagnostic Laboratory “Genica”, Sofia, BulgariaDepartment of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, BulgariaGenetic Medico-Diagnostic Laboratory “Genica”, Sofia, BulgariaWe present the findings of a Whole Exome Sequencing in a 2-year-old boy, conceived via In Vitro Fertilization with donor sperm, who suffers from an undiagnosed neurological syndrome. The following heterozygous variant in the EPHA4 gene was identified and classified as likely pathogenic: c.1655_1656, p.(Ser552CysfsTer23). Subsequent segregation analysis showed that the variant was not inherited from the mother and the sperm donor is not accessible for genetic testing. The presented results can further expand upon the genetic variants considered when diagnosing complex neurological syndromes and shows the importance of access to biological samples from donor banks in genetically ambiguous cases.https://doi.org/10.2478/bjmg-2023-0019epha4whole exome sequencingepilepsynovel genetic variantophthalmological anomaliesneurodevelopmental delay |
| spellingShingle | Sleptsova M Georgiev C Atemin S Dimova P Avdjieva-Tzavella D Tacheva G Litvinenko I Grozdanova L Todorov T Mitev V Todorova A EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay Balkan Journal of Medical Genetics epha4 whole exome sequencing epilepsy novel genetic variant ophthalmological anomalies neurodevelopmental delay |
| title | EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay |
| title_full | EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay |
| title_fullStr | EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay |
| title_full_unstemmed | EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay |
| title_short | EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay |
| title_sort | epha4 genetic variant in a patient with epilepsy ophthalmological anomalies and neurodevelopmental delay |
| topic | epha4 whole exome sequencing epilepsy novel genetic variant ophthalmological anomalies neurodevelopmental delay |
| url | https://doi.org/10.2478/bjmg-2023-0019 |
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