Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)

The study examined 11 individuals with X-linked dominant chondrodysplasia punctata (CDPX2) and identified seven novel mutations in the emopamil-binding protein (EBP) gene. Common symptoms included short stature, asymmetrical limb shortening, patchy ichthyosis, sparse and dry hair, and cicatricial alopecia. Elevated levels of certain sterols indicated abnormal metabolism. The research expanded known mutations to 53, including two in males, and highlighted genetic complexity. It was noted that normal mental development in affected females might be due to compensation by normal X-inactivated cells. The study recommended gas chromatography–mass spectrometry for diagnosis and direct sequencing of the EBP gene for confirmation, but found that clinical severity could not be predicted by sterol profiles or mutations.