Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)


Chondrodysplasia Punctata 2, X Linked Dominant (CDPX2; CPDXD; CPXD; Conradi-Hunermann Syndrome; Happle Syndrome; Conradi-Hunermann-Happle Syndrome is caused by a mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein (EBP). EBP contains the code for the enzyme 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase, which normally catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. A defect in this enzyme causes accumulation of 8-dehydrocholesterol and 8(9)cholestenol in the plasma. Symptoms include alopecia, dysmorphism, hyperkeratosis, ichthyosis, kyphoscoliosis, limb abnormalities and deformities, and mental retardation.

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References

  1. OMIM: Entry 302960
  2. Metagene: mp=CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT
  3. Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V: Two novel EBP mutations in Conradi-Hunermann-Happle syndrome. Eur J Dermatol. 2008 Jul-Aug;18(4):391-3. Epub 2008 Jun 23. Pubmed
  4. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D: Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet. 1999 Jul;22(3):291-4. Pubmed
  5. Herman GE: Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R75-88. Pubmed
  6. Sutphen R, Amar MJ, Kousseff BG, Toomey KE: XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) Am J Med Genet. 1995 Jul 3;57(3):489-92. Pubmed