A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.01.011
Abstract: The transcription factor v-maf avain musculoaponeurotic fibrosarcoma oncogene homolog (MAF) plays an important role in lens development. It contains a unique extended homology region (EHR) in the DNA binding domain. MAF mutations are associated with… read more here.
Keywords: transactivation; maf; cataract; congenital nuclear ... See more keywords
A novel frameshift variant in BCOR causes congenital nuclear cataract
Sign Up to like & getrecommendations! Published in 2024 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2024.2373248
Abstract: ABSTRACT Background BCL6 co-repressor (BCOR) gene variants are involved in oculofaciocardiodental (OFCD) syndrome, acute myeloid leukaemia, renal tumours, and photoreceptor degenerative diseases. Here, we describe a British family with a pathogenic heterozygous variant in the… read more here.
Keywords: variant bcor; cataract; nuclear cataract; congenital nuclear ... See more keywords