ArticleEuropean journal of human genetics : EJHG2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 108 citations in OpenAlex.
- BCOR Mutations Deregulate Cell Cycle and Hypoxic Adaptation Pathways in Retinoblastoma.Molecular cancer research : MCR · 2026Article
- Next-Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non-retinal Developmental Eye Disorders.Human mutation · 2026Article
- Epigenetic profiles of response to transcranial magnetic stimulation in treatment resistant depression.BMC medical genomics · 2025Article
- Analysis of a BCOR internal tandem duplication in mouse embryonic stem cell to neuronal precursor differentiation.Genetics · 2025Article
- A novel frameshift variant inOphthalmic genetics · 2024Article
- Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.Orphanet journal of rare diseases · 2024Article
- Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Oculo-facio-cardio-dental (OFCD) syndrome: a case report.Journal of medical case reports · 2024Article
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024Article
- Longitudinal Three-Dimensional Stereophotogrammetric Growth Analysis in Infants with Unilateral Cleft Lip and Palate from 3 to 12 Months of Age.Journal of clinical medicine · 2023Article
- Oculofaciocardiodental syndrome caused by a novel BCOR variant.Human genome variation · 2023Article
- Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.Human molecular genetics · 2023Article
- [Oculo-facio-cardio-dental syndrome caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- 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
- A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.BMC pediatrics · 2022Article
- Y chromosome is moving out of sex determination shadow.Cell & bioscience · 2022Review
- Nonsyndromic Generalized Radiculomegaly of Permanent Dentition: A Rare Case Report.Case reports in dentistry · 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
37 authors at 20 institutions in 6 countries.
Funding
Abstract
Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We identify for the first time mosaic BCOR mutations in two females with OFCD syndrome and one apparently asymptomatic female. We present a female diagnosed with isolated ocular defects and identify minor features of OFCD syndrome, suggesting that OFCD syndrome may be mild and underdiagnosed. We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. The absence of BCOR mutations in a panel of patients with non-specific laterality defects suggests that mutations in BCOR are not a major cause of isolated heart and laterality defects. Phenotypic analysis of OFCD and Lenz microphthalmia syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, microphthalmia and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/laterality defects.
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