ArticleEuropean journal of human genetics : EJHG2023
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 4 citations in OpenAlex.
- A novel frameshift mutation in theInternational journal of ophthalmology · 2025Article
- Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.BMC oral health · 2024Article
- Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient withAmerican journal of ophthalmology case reports · 2024Article
- New year, new genes.European journal of human genetics : EJHG · 2023Article
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6 authors at 2 institutions in 1 country.
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Abstract
Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gene located on the X chromosome. OFCD affects only females with presumed embryonic lethality among males. We report a first case of a female with biallelic mosaic variants in BCOR gene, leading to a severe ocular phenotype including anterior segment dysgenesis, cataracts, and retinal involvement. The unique condition of biallelic mosaic loss-of-function mutations leads to a variable expression of an allele with the pathogenic variant, independent of the X-Inactivation pattern. This novel mechanism of co-existent biallelic mosaicism should be suspected in unexplained severe cases of OFCD.
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