Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features,Human Genome Variation

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Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features
Human Genome Variation ( IF 1.0 ) Pub Date : 2023-08-07 , DOI: 10.1038/s41439-023-00250-z
Keiko Shimojima Yamamoto _{1,

2} , Ayumi Yoshimura ₃ , Toshiyuki Yamamoto ₂

Affiliation

A biallelic nonsense variant of the potassium channel tetramerization domain-containing protein 3 gene (KCTD3) [c.1192C>T; p.R398*] was identified in a patient with developmental epileptic encephalopathy with distinctive features and brain structural abnormalities. The patient showed isodisomy of chromosome 1, where KCTD3 is located, and the father was heterozygous for the same variant. Based on these findings, paternal uniparental disomy was considered to cause the biallelic involvement of KCTD3.

中文翻译：

双等位基因 KCTD3 无义变异源自患有发育性癫痫性脑病且具有独特特征的患者 1 号染色体父系单亲异构体

含钾通道四聚化结构域的蛋白 3 基因 ( KCTD3 ) 的双等位基因无义变体 [c.1192C>T；p.R398*] 是在一名患有发育性癫痫性脑病的患者中发现的，该患者具有独特的特征和大脑结构异常。患者表现出KCTD3所在的 1 号染色体二倍体，而父亲则为相同变异的杂合子。基于这些发现，父本单亲二体性被认为导致 KCTD3 的双等位基因参与。

更新日期：2023-08-07

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