A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
复制标题
DOI：
10.1038/s41439-019-0046-x
复制
发表时间：
2019-03-25
影响因子：
1.5
通讯作者：
Saitoh, Shinji
中科院分区：
文献类型：
--
作者：
Ieda, Daisuke;Hori, Ikumi;Saitoh, Shinji
SLC9A6(Xq26.3)功能缺失突变是男性Christian综合征的原因。我们在一名患有严重发育迟缓和难治性癫痫的7岁男孩中发现了SLC9A6的一个新的剪接突变(NM_006359.2：C.1141-8C>；A)。功能分析发现了多个异常转录本，没有一个维持着规范的开放阅读框架。然而，计算机预测工具未能检测到所有的异常转录。
A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microcephaly, severe developmental delay, and intractable epilepsy. Functional analysis found multiple aberrant transcripts, none of which maintained the canonical open reading frame. Computer prediction tools, however, failed to detect all of the aberrant transcripts.