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

Abstract

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.