Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
September 2003
in “
Journal of Investigative Dermatology
”
TLDR New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
The study examined 11 individuals with X-linked dominant chondrodysplasia punctata (CDPX2), identifying novel mutations in the EBP gene linked to the condition, which causes skeletal, skin, eye, and hair abnormalities, including cicatricial alopecia. It found elevated sterol levels in most patients, indicating abnormal metabolism. The research highlighted genetic variability in CDPX2, noting that affected females had normal mental development due to compensation by normal X-inactivated cells, while males were severely handicapped. The study underscored the utility of gas chromatography–mass spectrometry for diagnosis, with EBP gene sequencing recommended for confirmation.
