Defects of WW domain‐containing oxidoreductase (WWOX) has been associated with autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early‐onset epileptic encephalopathy. The mutations in this gene can lead to global developmental delay, acquired microcephaly, and epilepsy. We report an infant with an autosomal recessive severe early‐onset epileptic encephalopathy. Whole exome sequencing analysis was applied to the patient. Novel compound heterozygous mutations in the WWOX gene, c.173‐2A > G and c.775 T > C (p.Ser259Pro), were identified. The present study expands our knowledge of WWOX mutations and related phenotypes, and provides new information on the genetic defects associated with this disease for clinical diagnosis.

中文翻译：

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WWOX 基因中新型复合杂合突变导致早期婴儿癫痫性脑病

含 WW 结构域的氧化还原酶 (WWOX) 的缺陷与常染色体隐性脊髓小脑共济失调 12 型 (SCAR12) 和严重的早发性癫痫性脑病有关。该基因的突变可导致整体发育迟缓、获得性小头畸形和癫痫。我们报告了一名患有常染色体隐性遗传的严重早发性癫痫性脑病的婴儿。对患者进行全外显子组测序分析。鉴定了 WWOX 基因中的新型复合杂合突变，c.173-2A > G 和 c.775 T > C (p.Ser259Pro)。本研究扩展了我们对 WWOX 突变和相关表型的认识，并为临床诊断提供了与该疾病相关的遗传缺陷的新信息。