Torpedo Maculopathy Associated with NEXMIF Mutation
Torpedo Maculopathy Associated with NEXMIF Mutation
复制标题
与 NEXMIF 突变相关的鱼雷性黄斑病变
作者：
T. Alarcon;A. Khan;K. Myers
神经突延伸和迁移因子（NEXMIF）基因突变与X连锁智力残疾相关。到目前为止，所有报告NEXMIF突变的男性都有轻度至重度智力残疾，伴有自闭症特征、言语障碍或缺失、癫痫、面部畸形和斜视的不同组合。受影响的女性往往有轻度的智力残疾，但严重的，抗药性癫痫。在这里，我们提出了一个32个月大的男孩与一个新的从头移码NEXMIF致病变异（p.Glu375ArgfsX21）谁有轻度运动迟缓，语言迟缓，自闭症的特点，斜视。除了这些通常描述的NEXMIF突变的发现外，他的眼底检查还发现了一种非常罕见的眼科异常，鱼雷状黄斑病变。之前未报告NEXMIF突变的这一结果;然而，在文献综述中，7/15例NEXMIF突变男性患者存在其他眼科异常。该患者扩大了NEXMIF突变男性的表型谱，并表明NEXMIF可能在眼部发育中发挥重要作用。
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.
影响因子：
3.5
作者：
Van Maldergem, Lionel;Hou, Qingming;Man, Heng-Ye
通讯作者：
Man, Heng-Ye