Cole-Carpenter syndrome due to recurrent P4HB variant

In 1987, Cole and Carpenter reported two infants with multiple fractures and deformities of bone, with a skeletal phenotype similar to severe brittle bone disease. They were reported to have normal intelligence. This came to known as Cole-Carpenter syndrome (CCS). With advances in genetic screening, in 2015, these two patients were reported to have changes in P4HB gene, thus identifying the underlying cause of CCS. In this study, we describe another patient with CCS who carries the exact same change in P4HB gene and expand on the function of P4HB in collagen processing and radiological clues to the underlying diagnosis. (By Dr. Meena Balasubramanian, http://jmg.bmj.com/content/early/2017/12/19/jmedgenet-2017-104899 )

Drs. Meena Balasubramanian and Nick Bishop, authors presenting their work at a speciality bone conference