EPHA4 GENETIC VARIANT IN A PATIENT WITH EPILEPSY, OPHTHALMOLOGICAL ANOMALIES, AND NEURODEVELOPMENTAL DELAY
Sleptsova M, Georgiev C, Atemin S, Dimova P, Avdjieva-Tzavella D, Tacheva G, Litvinenko I, Grozdanova L, Todorov T, Mitev V, Todorova A
*Corresponding Author: Mila Sleptsova, BSc, Genetic Medico-Diagnostic Laboratory “Genica”, 84 Ami Bue Street, Sofia, Bulgaria; Email: milasleptsova99@gmail.com
page: 65
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Abstract
We present the findings of a Whole Exome Sequenc-
ing in a 2-year-old boy, conceived via In Vitro Fertilization
with donor sperm, who suffers from an undiagnosed neu-
rological 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.
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