EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay.

Autor: Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria., Georgiev C; ULB Neuroscience Institute, Université libre de Bruxelles (ULB), Brussels, Belgium., Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Dimova P; St. Ivan Rilski University Hospital, Sofia, Bulgaria., Avdjieva-Tzavella D; Department of Clinical Genetics, University Pediatric Hospital, Sofia, Bulgaria., Tacheva G; Department of Pediatrics, Medical University of Sofia, Sofia, Bulgaria.; Specialized Hospital for Active Treatment of Children's Diseases 'prof. Ivan Mitev', Sofia, Bulgaria., Litvinenko I; Department of Pediatrics, Medical University of Sofia, Sofia, Bulgaria.; Specialized Hospital for Active Treatment of Children's Diseases 'prof. Ivan Mitev', Sofia, Bulgaria., Grozdanova L; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Todorov T; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Mitev V; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria., Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.
Jazyk: angličtina
Zdroj: Balkan journal of medical genetics : BJMG [Balkan J Med Genet] 2024 Mar 12; Vol. 26 (2), pp. 65-68. Date of Electronic Publication: 2024 Mar 12 (Print Publication: 2023).
DOI: 10.2478/bjmg-2023-0019
Abstrakt: 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.
(© 2023 M Sleptsova et al., published by Sciendo.)
Databáze: MEDLINE
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