WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report.

IF 2.1 3区医学 Q2 PEDIATRICS

Frontiers in Pediatrics Pub Date : 2024-10-02 eCollection Date: 2024-01-01 DOI:10.3389/fped.2024.1453778

Dan Feng, Ye Li, Ya-Ting Zhang, Yan-Jun Song, Dong-Yuan Qin, Fan Wang

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引用次数: 0

Abstract

Background: WWOX-related epileptic encephalopathy is an autosomal recessive disorder caused by mutations in the WW-containing oxidoreductase gene, characterized by the onset of refractory seizures in infants. Early-onset epilepsy, electroencephalography abnormalities, and developmental delay or degeneration are the main clinical manifestations. Early death can occur in severe cases. In the present study, a novel variant in WWOX was detected in a patient with epilepsy and his healthy parents.

Case presentation: A 5-month-old boy presented with epilepsy. The main manifestations were intractable seizures, mental and motor retardation and hearing impairment. Subsequent genetic testing revealed the presence of an epilepsy-associated novel mutation: c.991C>A (amino acid change: p.Ser304Tyr) in the WWOX gene. Variants were inherited from parents with healthy phenotypes. Finally, a patient died at 6 months of age.

Conclusion: The discovery of novel variants has enriched the existing database of WWOX gene variants and may expand the range of clinical options for treating WWOX-related disorders.

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WWOX基因新型突变导致的WWOX相关癫痫性脑病：病例报告。

背景：WWOX相关癫痫性脑病是一种常染色体隐性遗传疾病，由含WW的氧化还原酶基因突变引起，以婴儿出现难治性癫痫发作为特征。主要临床表现为早发性癫痫、脑电图异常、发育迟缓或退化。严重病例可出现早期死亡。在本研究中，我们在一名癫痫患者及其健康的父母中发现了一种新的 WWOX 变异：一名 5 个月大的男孩患有癫痫。主要表现为顽固性癫痫发作、智力和运动发育迟缓以及听力障碍。随后的基因检测发现，WWOX 基因中存在一个与癫痫相关的新型突变：c.991C>A（氨基酸变化：p.Ser304Tyr）。变异基因遗传自表型健康的父母。最后，一名患者在 6 个月大时死亡：结论：新型变异体的发现丰富了现有的 WWOX 基因变异体数据库，可能会扩大治疗 WWOX 相关疾病的临床选择范围。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health

CiteScore

3.60

自引率

7.70%

发文量

2132

审稿时长

14 weeks

期刊介绍： Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.