X-linked recessive chondrodysplasia punctata

X-linked recessive chondrodysplasia punctata
Classification and external resources
Specialty medical genetics
ICD-10 Q77.3
OMIM 302950
DiseasesDB 34567
GeneReviews

X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.[1]:500

It causes maxillary hypoplasia (flat nose / affected nasal bridge), stippling shown on x-ray on bones and cartlidge, and shorter ends of the finger tips or toes.

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.[2] 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.[3] It seems likely that warfarin induced embryotoxicity may be due at least in part to this inhibition.

Diagnosis

This condition occurs almost exclusively in males. The mutation may be spontaneous or inherited from the mother. The typical clinical features are:

Biochemical confirmation

The activity of arylsulfatase E can be measured with the substrate 4-methylumbelliferyl sulfate.

See also

References

  1. ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ↑ Nino M, Matos-Miranda C, Maeda M, et al. (April 2008). "Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata". Am. J. Med. Genet. A 146A (8): 997–1008. doi:10.1002/ajmg.a.32159. PMID 18348268.
  3. ↑ Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A (1995) A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81(1):15-25
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