A novel frameshift variant in BCOR causes congenital nuclear cataract

Berry, Vanita; Ponnekanti, Manav B; Pontikos, Nikolas; Quinlan, Roy A; Michaelides, Michel

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 BCOR gene causing congenital nuclear cataract.

Methods
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.

Results
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.

Conclusions
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.

Citation

Berry, V., Ponnekanti, M. B., Pontikos, N., Quinlan, R. A., & Michaelides, M. (online). A novel frameshift variant in BCOR causes congenital nuclear cataract. Ophthalmic Genetics, 1-5. https://doi.org/10.1080/13816810.2024.2373248

• Journal Article Type: Article
• Acceptance Date: Jun 22, 2024
• Online Publication Date: Jul 3, 2024
• Deposit Date: Jul 23, 2024
• Publicly Available Date: Jul 23, 2024
• Journal: Ophthalmic genetics
• Print ISSN: 1381-6810
• Electronic ISSN: 1744-5094
• Publisher: Taylor and Francis Group
• Peer Reviewed: Peer Reviewed
• Pages: 1-5
• DOI: https://doi.org/10.1080/13816810.2024.2373248
• Public URL: https://durham-repository.worktribe.com/output/2602978