Aetiology
The only known cause of this condition is a mutation in the X-linked chondrodysplasia punctata 1 (CDPX1) gene. Mutations in this gene result in a deficiency of arylsulfatase E. Only 50-60% of cases have been shown to have mutations in this gene and the cause of the remaining cases is not yet known.
The CDPX1 gene is located on the short arm of the X chromosome (Xp22.3) on the Crick (minus) strand. It is 33,614 bases in length.
The mature protein has a molecular weight of 68 kiloDaltons. It is glycosylated and is located in the Golgi apparatus. Its activity may be inhibited by warfarin. It seems likely that warfarin induced embryotoxicity may be due at least in part to this inhibition.
Read more about this topic: X-linked Recessive Chondrodysplasia Punctata