ArticleMolecular syndromology2014
Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.
Article in Molecular syndromology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 17 citations in OpenAlex.
- Oculo-facio-cardio-dental (OFCD) syndrome: a case report.Journal of medical case reports · 2024Article
- Oculofaciocardiodental syndrome caused by a novel BCOR variant.Human genome variation · 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
- A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.BMC pediatrics · 2022Article
- OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR.Developmental biology · 2020Article
- The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.BMC ophthalmology · 2020Article
- Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.Human genetics · 2019Article
- New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report.Medicine · 2018Article
- Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.European journal of human genetics : EJHG · 2016Article
- Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.American journal of medical genetics. Part A · 2016Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this study, we report on 2 sisters from India with oculo-facio-cardio-dental (OFCD) syndrome caused by a novel heterozygous mutation c.3490C>T (p.R1164*) in the BCOR gene. OFCD syndrome is an X-linked inherited disorder which is lethal in males. Interestingly, both parents of the sisters were phenotypically normal, and DNA analysis from blood and buccal or saliva cells failed to detect the BCOR mutation found in their 2 daughters. To the best of our knowledge, for the first time, we provide indirect evidence of germline mosaicism for the BCOR mutation in one of the parents of the 2 sisters affected by OFCD syndrome. Although this condition is lethal in males, gonadal mosaicism could also be present in the father. The relevance of clinical diagnosis and mutation analysis required for genetic counseling is described in this family.
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