%0 Systematic Review
%T An atypical Aymé-Gripp phenotype detected by exome sequencing.
%A Caiazza M
%A Budillon A
%A Monda E
%A Aruta G
%A Esposito A
%A Del Vecchio Blanco F
%A Piluso G
%A Nigro V
%A Scarano G
%A Limongelli G
%J Am J Med Genet A
%V 194
%N 1
%D 2024 01 15
%M 37712597
%F 2.578
%R 10.1002/ajmg.a.63406
%X 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.