目的　探讨X连锁智力障碍的临床表型与基因型的关系。方法　回顾分析1例癫痫伴智力障碍患儿的临床 资料以及全外显子捕获测序结果。结果　男性患儿， 9岁。生后4个月发现发育迟缓， 5个月癫痫发作， 4岁时智力发育障碍， 7岁时视力检查提示高度近视。脑电图提示癫痫样放电；头颅磁共振提示大枕大池；韦氏儿童智力量表评估示总智商49。 基因检测发现患儿OPHN1基因第19号外显子存在移码突变c.1641delA（p.K547fs*5），家系共分离验证发现其母亲携带 该变异位点。该变异位点既往未见报道。根据ACMG指南，其为致病性变异。患儿经抗癫痫药物丙戊酸钠联合拉莫三嗪 治疗，效果好。结论　OPHN1移码突变c.1641delA（p.K547fs*5）为患儿X连锁智力障碍的致病基因，临床表型为癫痫、 中度智力低下、高度近视、大枕大池。

Objective To report a case of X-linked intellectual disability and explore the relationship between its clinical phenotype and genotype. Method　The clinical data of a male child with epilepsy and intellectual disability were retrospectively analyzed. The whole exome capture sequencing was used to analyze the gene mutation. Results　The male child had delayed development in the 4th month of age. Seizure was noted in the 5th months of age. Mental retardation was found when he was 4-years old. The tested visual acuity suggested high myopia at 7 years old. Scalp EEG recording indicated epileptic discharge. Mega cisterna magna was observed on brain MRI. The total intelligence quotient was 49. Social adaptive quotient was assessed as moderately abnormal. Sequence analysis demonstrated a novel frameshift mutation c.1641delA (p.K547fs*5) in exon 19 of OPHN1 gene in the patient. The family co-separation verification found that the healthy mother carried the variation. According to the ACMG guidelines, the mutation was classified as pathogenic. The anti-epilepsy drugs sodium valproate and lamotrigine were effective. Conclusions　The OPHN1 gene mutation c.1641delA(p.K547fs*5) may be the cause of X-linked intellectual disability. The clinical phenotypes of the patient included epilepsy, moderate intellectual disability, high myopia and mega cisterna magna on brain MRI.