Article
A Case of Aymé-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain-A Case Report and Literature Review.
Genes - 27 Mar 2026
Chauhan Max, Rickels Kaersti L, Kurup Sudhi P, Bohnsack Brenda L, Ing Alexander, Drackley Andy, Goetsch Weisman Allison, Allegreti Valerie, Yap Kailee, Rathbun Pamela, Skol Andrew, McMullen Patrick, Ralay Ranaivo Hantamala, Rossen Jennifer L
Abstract excerpt
MAF encodes a transcription factor involved in T-helper-2 (Th2) cell differentiation. Heterozygous pathogenic variants in MAF have been observed in both isolated and syndromic congenital cataract cases; genotype-phenotype correlations are based on the location of the variant within the gene. Variants in the N-terminus domain of MAF are associated with cataracts as part of Aymé-Gripp syndrome. The purpose of this...
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