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

Gene. 2015 Oct 15;571(1):142-4. doi: 10.1016/j.gene.2015.07.061. Epub 2015 Jul 18.


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.

Keywords: BCL-6 interacting repressor; Congenital heart defect; Dextrocardia; LMS; Lenz microphthalmia syndrome; OFCD syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Amino Acid Sequence
  • Anophthalmos / diagnosis
  • Anophthalmos / genetics*
  • Cataract / congenital*
  • Cataract / diagnosis
  • Cataract / genetics
  • DNA Mutational Analysis
  • Fatal Outcome
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics
  • Heart Septal Defects / diagnosis
  • Heart Septal Defects / genetics*
  • Humans
  • Infant
  • Male
  • Microphthalmos / diagnosis
  • Microphthalmos / genetics*
  • Molecular Sequence Data
  • Mutation, Missense*
  • Proto-Oncogene Proteins / genetics*
  • Repressor Proteins / genetics*
  • Sequence Homology, Amino Acid


  • BCOR protein, human
  • Proto-Oncogene Proteins
  • Repressor Proteins

Supplementary concepts

  • Microphthalmia, syndromic 1
  • Microphthalmia, syndromic 2