BCOR

Variants (also called mutations) in the BCOR gene can cause oculofaciocardiodental (OFCD) syndrome. This condition affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-), and teeth (dental). Some of these variants delete large amounts of genetic material from the BCOR gene, while other variants alter the gene's instructions such that no BCL6 corepressor protein can be produced. A loss of this protein disrupts the normal development of the eyes and several other organs and tissues before birth.

OFCD syndrome occurs exclusively in individuals with two X chromosomes (typical of females). OFCD syndrome has an X-linked dominant inheritance pattern, which means that one altered copy of the BCOR gene in each cell is sufficient to cause the condition. The genetic changes that underlie OFCD syndrome prevent the production of any BCL6 corepressor protein. As a result, affected individuals have about half of the normal amount of this protein, which leads to the signs and symptoms of OFCD syndrome.

In individuals who have only one X chromosome in each cell (typical for males), these variants would prevent the production of any BCL6 corepressor protein. A complete lack of this protein is thought to be lethal very early in development.

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