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.

Max Chauhan, Kaersti L Rickels, Sudhi P Kurup, Brenda L Bohnsack, Alexander Ing, Andy Drackley, Allison Goetsch Weisman, Valerie Allegreti, Kailee Yap, Pamela Rathbun, Andrew Skol, Patrick McMullen, Hantamala Ralay Ranaivo, Jennifer L Rossen

Journal: Genes 2026;17(4):

PMID: 42074498

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Abstract

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 report is to expand the ocular phenotypic spectrum of Aymé-Gripp syndrome by describing a patient with MAF variant c.185C>G, p.Thr62Arg, and the traditional systemic findings and congenital cataracts as well as an unusual feature of pigmentary retinopathy, which has not been previously reported in Aymé-Gripp syndrome. Additionally, a comprehensive review of the literature was completed to report ocular genotype-phenotype data on previously reported patients with MAF-associated Aymé-Gripp syndrome.

Address: Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Edwards Family Division of Genetics & Rare Diseases, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.

DOI: 10.3390/genes17040380

MeSH Terms: Humans, Cataract, Proto-Oncogene Proteins c-maf, Male, Retinitis Pigmentosa, Female, Phenotype, Genetic Association Studies, Mutation, Intellectual Disability