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T. Fujimaki, T. Yokoyama, H. Kawano, K. Fujiki, M. Ikeda, A. Murakami; A Case Report of Oculofaciocardiodental Syndrome With Novel BCOR Gene Mutation. Invest. Ophthalmol. Vis. Sci. 2008;49(13):465. doi: https://doi.org/.
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Oculo-facio-cardio-dental syndrome (OFCD, OMIM no. 300166) is an uncommon X-linked dominant, lethal in the male syndrome with multisystemic involvement (Marashi and Gorlin, 1990; Wilkie et al., 1993; Schulze et al., 1999). Obwegeser and Gorlin (1997), who referred to this condition as the OFCD, stated that Hayward (1980) was probably the first to report the association of congenital cataracts and radiculomegaly of the canine teeth. Recently, mutations in the BCOR gene were identified in OFCD patients (Ng et al., 2004). We investigated the BCOR gene mutations in a congenital cataract patient who were suspected of being OFCD.
A female aged fourteen years has been following up in our hospital after congenital cataract lensectomy at age nine month. She has microphthalmia, radiculomegaly, and cardiac and digital abnormalities. She had undergone atrial septal defect (ASD) operation at the age six. She is suffering from secondary glaucoma in OD, and phthisis bulbi from proliferative vitreous retinopathy in OS at age eleven. Her visual acuity is (0.1) OD and IOP is 20 mmHg with medication. Genomic DNA was extracted from leukocytes of peripheral blood of the patient in accordance with standard procedures after obtaining of informed consent. We amplified the BCOR 15 exons from genomic DNA of the patients using a PCR method, and the dye terminator method was used for sequencing.
We identified a single nucleotide substitution, resulting in a stop codon mutation, nt 4537C→T; R1513X, in the BCOR gene exon 12 in our patient previously. This mutation was not observed in 40 subjects in the control group and appeared to be a novel mutation associated with OFCD.
We detected a BCOR novel mutation for the first time in a Japanese OFCD patient. In this study, the presence of BCOR gene mutation might be the causative gene for OFCD syndrome also in Japanese population.
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