Mutations in the neurite extension and migration factor (NEXMIF) gene are associated with X-linked intellectual disability. Thus far, all males reported with NEXMIF mutations have mild to profound intellectual disability with varying combinations of autistic features, poor or absent speech, epilepsy, facial dysmorphism, and strabismus. Affected females tend to have milder intellectual disability but severe, drug-resistant epilepsy. Here, we present a 32-month-old boy with a novel de novo frameshift NEXMIF pathogenic variant (p.Glu375ArgfsX21) who has mild motor delay, language delay, autistic features, and strabismus. In addition to these commonly described findings of NEXMIF mutations, his fundus exam revealed a very rare ophthalmologic abnormality, torpedo maculopathy. This finding has not previously been reported with NEXMIF mutation; however, on literature review, 7/15 males with NEXMIF mutations had other ophthalmologic abnormalities. This patient expands the phenotypic spectrum for males with NEXMIF mutations and suggests that NEXMIF may play an important role in ocular development.

中文翻译：

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鱼雷黄斑病变伴有NEXMIF突变。

神经突延伸和迁移因子（NEXMIF）基因的突变与X连锁的智力障碍有关。到目前为止，据报道所有患有NEXMIF突变的男性均具有轻度至严重的智力残疾，并伴有自闭症特征，言语差或缺乏，癫痫，面部畸形和斜视的各种组合。受影响的女性往往具有较轻的智力障碍，但患有严重的耐药性癫痫病。在这里，我们介绍了一个32个月大的男孩，他有一个新的从头开始移码的NEXMIF致病变体（p.Glu375ArgfsX21），具有轻度的运动延迟，语言延迟，自闭症和斜视。除了这些通常描述的NEXMIF突变发现之外，他的眼底检查还显示出非常罕见的眼科异常：鱼雷黄斑病。以前尚未报道过NEXMIF突变的发现。然而，根据文献综述，有NEXMIF突变的7/15男性还有其他眼科异常。该患者扩大了具有NEXMIF突变的男性的表型谱，并暗示NEXMIF可能在眼部发育中起重要作用。