Vanita Berry, Manav B Ponnekanti, Nikolas Pontikos, Roy A Quinlan, Michel Michaelides
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引用次数: 0
摘要
背景：BCL6共抑制因子（BCOR）基因变异与眼心血管疾病（OFCD）综合征、急性髓性白血病、肾肿瘤和感光器退行性疾病有关。在此，我们描述了一个英国家族的 BCOR 基因致病性杂合子变异导致先天性核性白内障的情况：方法：我们对一个三代同堂的 X 连锁显性先天性白内障患者进行了全基因组测序，以确定潜在的遗传基础。生物信息学分析确认了具有破坏性致病性评分的变异：结果：发现了一个新的可能致病的框架移位变异 BCOR NM_001123385.1：c.3621del; p.Lys1207AsnfsTer31，并发现该变异与该家族中的疾病共分离：这显然是第一份关于 BCOR 变异导致 X 连锁显性先天性白内障的报告，这种先天性白内障可能是孤立的，或表现为非常轻微的全身性表型。我们的发现扩展了先天性白内障的遗传基础，并增加了 BCOR 变体的表型谱。
A novel frameshift variant in BCOR causes congenital nuclear cataract.
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.
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Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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