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BCOR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BCOR gene

The BCOR gene encodes the BCL6 corepressor, a protein that regulates gene activity and is essential for early embryonic development, including the formation of eyes and other organs.

Normal Function

The BCOR gene provides instructions for making the BCL6 corepressor. A corepressor is a protein that cannot bind to DNA on its own but interacts with other DNA-binding proteins to suppress the activity of specific genes. In this case, it partners with the protein produced by the BCL6 gene.

The BCL6 corepressor plays a critical role in early development, including the formation of the eyes and other tissues. It is believed to help specify the left and right sides of the body in the developing embryo and may regulate development by influencing apoptosis (the self-destruction of damaged or unnecessary cells).

Health Conditions Related to Genetic Changes

Oculofaciocardiodental syndrome

Variants in the BCOR gene can cause oculofaciocardiodental (OFCD) syndrome, a condition affecting the development of the eyes, facial features, heart, and teeth. The condition follows an X-linked dominant inheritance pattern.

  • Females: Because females have two X chromosomes, one altered copy of the BCOR gene is sufficient to cause the condition. Affected individuals produce about half the normal amount of the BCL6 corepressor protein.
  • Males: Because males have only one X chromosome, variants that prevent the production of the BCL6 corepressor are thought to be lethal very early in development.

Anophthalmia/Microphthalmia and Coloboma

Variants in the BCOR gene are also associated with Anophthalmia/Microphthalmia and Coloboma, conditions involving abnormal eye development.

Genomic Location

The BCOR gene is found on the X chromosome.

Frequently Asked Questions

Diagnosis begins with a detailed clinical evaluation of characteristic eye, facial, cardiac, and dental findings. If OFCD is suspected, a targeted X‑linked panel or whole‑exome sequencing that includes the BCOR gene is recommended. Sequencing can detect point mutations, small deletions, or duplications; copy‑number analysis may be needed for larger rearrangements.
Management is multidisciplinary. Early ophthalmology referral allows assessment for any residual visual potential. For microphthalmia, custom ocular prostheses can promote orbital growth and improve cosmetic appearance. In selected cases, surgical enlargement of the globe or implantation of a silicone sphere may be considered. Vision‑rehabilitation services, low‑vision aids, and educational support are crucial for maximizing functional vision.
Yes, affected females can conceive. Since OFCD follows an X‑linked dominant pattern, each daughter has a 50 % chance of inheriting the mutant BCOR allele and being affected, while each son has a 50 % chance of inheriting the allele and typically experiencing early embryonic lethality. Prenatal testing (chorionic villus sampling or amniocentesis) or pre‑implantation genetic testing can be offered to determine fetal status.
Baseline evaluation with an echocardiogram and electrocardiogram is essential at diagnosis. Because congenital heart defects (e.g., atrial septal defect, ventricular septal defect, or valve abnormalities) can evolve, repeat echocardiograms are advised at least annually during childhood and then every 2–3 years in adolescence, or sooner if symptoms develop.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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