%0 Journal Article
%T A novel frameshift variant in BCOR causes congenital nuclear cataract.
%A Berry V
%A Ponnekanti MB
%A Pontikos N
%A Quinlan RA
%A Michaelides M
%J Ophthalmic Genet
%V 0
%N 0
%D 2024 Jul 3
%M 38957147
%F 1.274
%R 10.1080/13816810.2024.2373248
%X <B>UNASSIGNED: </B>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 BCOR gene causing congenital nuclear cataract.<BR><B>UNASSIGNED: </B>Whole-exome sequencing was conducted on an individual affected by X-linked dominant congenital cataract in a three-generation family to establish the underlying genetic basis. Bioinformatics analysis confirmed the variants with damaging pathogenicity scores.<BR><B>UNASSIGNED: </B>A novel likely pathogenic frameshift variant BCOR NM_001123385.1: c.3621del; p.Lys1207AsnfsTer31, was identified and found to co-segregate with the disease in this family.<BR><B>UNASSIGNED: </B>This is apparently the first report of a variant in BCOR causing X-linked dominant congenital cataract which is potentially isolated or presenting with a remarkably mild systemic phenotype. Our findings extend the genetic basis for congenital cataract and add to the phenotypic spectrum of BCOR variants.