Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

✍ Scribed by Bick, David ;Curry, Cynthia J. R. ;McGill, John R. ;Schorderet, Daniel F. ;Bux, Robert C. ;Moore, Charleen M.

• Publisher: John Wiley and Sons
• Year: 1989
• Tongue: English
• Weight: 917 KB
• Volume: 33
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320330114

✦ Synopsis

We report on a male infant with X-linked ichthyosis, X-linked Kallmann syndrome, and Xlinked recessive chondrodysplasia punctata (CPXR). Chromosome analysis showed a terminal deletion with a breakpoint at Xp22.31, inherited maternally. This patient confirms the localization of XLI, XLK, and CPXR to this re- gion of the X chromosome and represents an example of a "contiguous gene syndrome."

A comparison of the manifestations of patients with CPXR, warfarin embryopathy, and vitamin K epoxide reductase deficiency shows a remarkable similarity. However, vitamin K epoxide reductase deficiency does not appear to be the cause of CPXR. We propose that CPXR may be due to a defect in a vitamin K-dependent bone protein such as vitamin K-dependent bone carboxylase, osteocalcin, or matrix Gla protein.

KEY WORDS: X chromosome deletion, vitamin K epoxide reductase, warfarin embryopathy, gene mapping, vitamin K-dependent bone protein