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.

中文翻译：

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克里斯琴森氏综合症男孩中SLC9A6的新型剪接突变。

SLC9A6（Xq26.3）中功能缺失突变是造成男性克里斯琴森综合症的原因。我们在一个小头畸形，严重的发育迟缓和顽固性癫痫的七岁男孩中发现了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的转录本，没有一个能保持规范的开放阅读框架。但是，计算机预测工具无法检测到所有异常的笔录。