Abstract
Oculofaciocardiodental syndrome (OFCD) is an X-linked dominant disorder associated with male lethality, presenting with congenital cataract, dysmorphic face, dental abnormalities and septal heart defects. Mutations in BCOR (encoding BCL-6-interacting corepressor) cause OFCD. Here, we report on a Korean family with common features of OFCD including bilateral 2nd–3rd toe syndactyly and septal heart defects in three affected females (mother and two daughters). Through the mutation screening and copy number analysis using genomic microarray, we identified a novel heterozygous mutation, c.888delG, in the BCOR gene and two interstitial microduplications at Xp22.2–22.13 and Xp21.3 in all the three affected females. The BCOR mutation may lead to a premature stop codon (p.N297IfsX80). The duplication at Xp22.2–22.13 involved the NHS gene causative for Nance–Horan syndrome, which is an X-linked disorder showing similar clinical features with OFCD in affected males, and in carrier females with milder presentation. Considering the presence of bilateral 2nd–3rd toe syndactyly and septal heart defects, which is unique to OFCD, the mutation in BCOR is likely to be the major determinant for the phenotypes in this family.
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Acknowledgements
We thank the family members for their participation in this study. This work was supported by Research Grants from the Ministry of Health, Labour and Welfare (HS, N Miyake and N Matsumoto) and the Japan Science and Technology Agency (N Matsumoto) and Grant-in-Aid for Scientific Research from Japan Society for the Promotion of Science (N Matsumoto).
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The URLs for data presented herein are as follows: UCSC Genome Browser, http://genome.ucsc.edu/cgi-bin/hgGateway
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Kondo, Y., Saitsu, H., Miyamoto, T. et al. A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. J Hum Genet 57, 197–201 (2012). https://doi.org/10.1038/jhg.2012.4
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DOI: https://doi.org/10.1038/jhg.2012.4
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