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

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2024-03-12 eCollection Date: 2023-12-01 DOI:10.2478/bjmg-2023-0019
M Sleptsova, C Georgiev, S Atemin, P Dimova, D Avdjieva-Tzavella, G Tacheva, I Litvinenko, L Grozdanova, T Todorov, V Mitev, A Todorova
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引用次数: 0

Abstract

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.

一名癫痫、眼科异常和神经发育迟缓患者的 EPHA4 基因变异。
我们介绍了对一名两岁男童进行全外显子组测序的结果,这名男童是通过捐献精子体外受精受孕的,患有一种未确诊的神经系统综合征。经鉴定,EPHA4 基因中存在以下杂合变异,并被归类为可能致病的变异:c.1655_1656, p.(Ser552CysfsTer23)。随后的分离分析表明,该基因变异不是从母亲那里遗传的,而且精子捐献者无法进行基因检测。上述结果进一步扩展了诊断复杂神经综合征时所考虑的遗传变异,并显示了在基因不明确的病例中从捐献者库中获取生物样本的重要性。
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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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