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.Brachytelephalangic chondrodysplasia punctata (BCDP) is the non-genetic, or environmentally produced, phenocopies associated with CDPX1. Causes of BCDP can also come from genetic effects, mainly due to mutations. Keutel syndrome, deficiency of vitamin K epoxide reductase subunit 1 (VKORC1), gamma-glutamyl carboxylase (GGCX), Xp contiguous deletion syndromes, and multiple sulfatase deficiency are all genetic conditions that are associated BCDP. Diagnosis
This condition occurs almost exclusively in males. The mutation may be spontaneous or inherited from the mother. The typical clinical features are:
flat nasal tip
short columella
maxillary hypoplasia
involvement of terminal phalanges
stippled chondrodystrophy

Biochemical confirmation
The activity of arylsulfatase E can be measured with the substrate 4-methylumbelliferyl sulfate. Treatment
CDPX1 activity may be inhibited by warfarin because it is believed that ARSE has enzymatic activity in a vitamin K producing biochemical pathway. Vitamin K is also needed for controlling binding of calcium to bone and other tissues within the body.
Treprostinil use has been reported to result in clearing of gastrointestinal and central nervous system findings as well as clearing of cutaneous lesions, but reports are limited. Treprostinil may be more effective than other vasodilators because it may also increase the population of circulating endothelial cells, allowing angiogenesis. Recent research
A 46-year-old male patient was diagnosed with the malignant, systemic form of the disease and was severely ill. The diagnosing dermatopathologist, Cynthia Magro MD, identified the presence of C5b-9 complexes in the involved vessels of the skin biopsy. For treatment of the thrombotic microangiopathy in this patient, she suggested the use of eculizumab, a humanized monoclonal antibody drug developed by Alexion Pharmaceuticals and approved by the Food and Drug Administration for treatment of Paroxysmal nocturnal hemoglobinuria. The patient experienced a dramatic improvement in his condition. Lee Shapiro MD and Aixa Toledo-Garcia MD at Albany Medical College learned of the success with the adult patient, and became the first physicians to successfully treat a pediatric Degos patient with eculizumab.Dr. Shapiro later observed the resolution of Degos skin lesions in an adult patient with an overlap syndrome involving systemic lupus, systemic sclerosis, and Degos disease who was treated with treprostinil for her pulmonary hypertension. His pediatric Degos patient was developing significant complications despite treatment with eculizumab, so Dr. Shapiros group became the first to treat a Degos patient with treprostinil. To this point, all known long-term survivors of systemic Degos disease are being treated with a combination of eculizumab and treprostinil.