Zhu X et al. (2015), Novel BCOR mutation in a boy with Lenz micropht...

XB-ART-51028

Gene 2015 Oct 15;5711:142-4. doi: 10.1016/j.gene.2015.07.061.

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Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.

Zhu X , Dai FR , Wang J , Zhang Y , Tan ZP , Zhang Y .

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Lenz microphthalmia syndrome and oculo-facio-cardio-dental syndrome (OFCD) are allelic X-linked syndromes and similarly characterized by ocular, distinctive facial morphology, cardiac, dental malformations and intellectual disability. We report a seven-month-old boy with congenital glaucoma, complex cardiac defect, dextrocardia and cerebral white matter hypoplasia suggestive of Lenz microphthalmia/OFCD syndrome. Molecular testing revealed a novel missense mutation (c.G1619A; p.R540Q) in BCOR. This boy might be the third male patient with a BCOR mutation based on literature search. Previously, Xenopus studies showed that BCOR is required for vertebrate laterality determination. Our finding provides additional support that the manifestations of defective lateral patterning and dextrocardia are associated with Lenz microphthalamia/OFCD syndrome.

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Species referenced: Xenopus
Genes referenced: bcl6 bcor pitx2
GO keywords: heart development [+]

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???displayArticle.omims??? MICROPHTHALMIA, SYNDROMIC 2; MCOPS2

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	Fig. 1. (A). Clinical features of the proband, the patient has a round face and glaucoma. (B). CT scan shows the dextrocardia and complex CHD.
	Fig. 2. (A). Sequencing results of the BCOR mutation. Sequence chromatogram indicates a de novo mutation (c.G1619A; p.R540Q) in the patient. (B). Alignment of multiple BCOR protein sequences across species. The R540 amino acid locates in the highly conserved amino acid region in different mammalian (from Ensembl). The highly conserved R540 amino acid is highlighted in red characters.