A novel frameshift variant in BCOR causes congenital nuclear cataract.
| Autor: | Berry V; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK., Ponnekanti MB; UCL Medical School, University College London, London, UK., Pontikos N; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK., Quinlan RA; Department of Biosciences, University of Durham, Durham, UK., Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK. |
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| Jazyk: | angličtina |
| Zdroj: | Ophthalmic genetics [Ophthalmic Genet] 2024 Dec; Vol. 45 (6), pp. 591-595. Date of Electronic Publication: 2024 Jul 03. |
| DOI: | 10.1080/13816810.2024.2373248 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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