ArticleHuman genetics2019
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 50 citations in OpenAlex.
- Proteome-wide Ubiquitinome Profiling Reveals Substrate-specific Dynamics Within the USP7 Network.Molecular & cellular proteomics : MCP · 2026Article
- Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies.European journal of human genetics : EJHG · 2026Article
- Genetic analysis and reproductive interventions in families affected by congenital cataracts: a study of 107 cases.Journal of applied genetics · 2026Article
- Hao-Fountain syndrome protein USP7 controls neuronal differentiation via BCOR-ncPRC1.1.Genes & development · 2025Article
- A novel frameshift mutation in theInternational journal of ophthalmology · 2025Article
- Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.Nature communications · 2024Article
- 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
- Oculo-facio-cardio-dental (OFCD) syndrome: a case report.Journal of medical case reports · 2024Article
- Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.The British journal of ophthalmology · 2023Article
- Article
- Oculofaciocardiodental syndrome caused by a novel BCOR variant.Human genome variation · 2023Article
- Somatic mutations alter the differentiation outcomes of iPSC-derived neurons.Cell genomics · 2023Article
- Tooth number abnormality: from bench to bedside.International journal of oral science · 2023Review
- A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.European journal of human genetics : EJHG · 2023Article
- Mutations inScience advances · 2022Article
- Non-Invasive Detection of a De Novo Frameshift Variant ofJournal of clinical medicine · 2022Article
- Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation.Epigenetics & chromatin · 2022Article
- A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.BMC pediatrics · 2022Article
- Molecular mechanism of hyperactive tooth root formation in oculo-facio-cardio-dental syndrome.Frontiers in physiology · 2022Article
- Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) inFrontiers in genetics · 2022Article
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Authors and funding
29 authors at 15 institutions in 7 countries.
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Abstract
Two distinct syndromes arise from pathogenic variants in the X-linked gene BCOR (BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects females, and a severe microphthalmia ('Lenz'-type) syndrome affecting males. OFCD is an X-linked dominant syndrome caused by a variety of BCOR null mutations. As it manifests only in females, it is presumed to be lethal in males. The severe male X-linked recessive microphthalmia syndrome ('Lenz') usually includes developmental delay in addition to the eye findings and is caused by hypomorphic BCOR variants, mainly by a specific missense variant c.254C > T, p.(Pro85Leu). Here, we detail 16 new cases (11 females with 4 additional, genetically confirmed, affected female relatives; 5 male cases each with unaffected carrier mothers). We describe new variants and broaden the phenotypic description for OFCD to include neuropathy, muscle hypotonia, pituitary underdevelopment, brain atrophy, lipoma and the first description of childhood lymphoma in an OFCD case. Our male X-linked recessive cases show significant new phenotypes: developmental delay (without eye anomalies) in two affected half-brothers with a novel BCOR variant, and one male with high myopia, megalophthalmos, posterior embryotoxon, developmental delay, and heart and bony anomalies with a previously undescribed BCOR splice site variant. Our female OFCD cases and their affected female relatives showed variable features, but consistently had early onset cataracts. We show that a mosaic carrier mother manifested early cataract and dental anomalies. All female carriers of the male X-linked recessive cases for whom genetic confirmation was available showed skewed X-inactivation and were unaffected. In view of the extended phenotype, we suggest a new term of X-linked BCOR-related syndrome.
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