Abstract：
Aymé-Gripp Syndrome (AGS) is an ultra-rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a pathogenic variant in MAF have been described to date. A significant effort is then required to expand the genotypic and phenotypic spectrum of this condition. In this paper, we report the peculiar case of a 6-year-old girl carrying a de novo missense pathogenic variant in MAF, being the first case reported to show a milder phenotype with no cataracts and deafness displayed. Furthermore, we performed a systematic review of previously published cases, focusing on clinical manifestation and genotype.
摘要：
Aymé-Gripp综合征（AGS）是一种极其罕见的综合征，其特征是特殊的面部特征并伴有早期双侧白内障，感觉神经性听力损失,和可变的神经发育异常。迄今为止，仅描述了少数在MAF中携带致病性变体的病例。然后需要显著的努力来扩展该病症的基因型和表型谱。在本文中,我们报道了一个6岁女孩携带MAF中从头错义致病变异的特殊病例，是第一个报告显示轻度表型的病例，没有白内障和耳聋。此外，我们对以前发表的病例进行了系统回顾，注重临床表现和基因型。
