vitamin-k-semiquinone-radical and Hypogonadism

We report on a male infant with X-linked ichthyosis, X-linked Kallmann syndrome, and X-linked 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 region 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.

Topics: Chondrodysplasia Punctata; Chromosome Deletion; Chromosome Mapping; Genetic Linkage; Humans; Hypogonadism; Ichthyosis; Infant; Male; Mixed Function Oxygenases; Olfaction Disorders; Olfactory Bulb; Sulfatases; Syndrome; Vitamin K; Vitamin K Epoxide Reductases; X Chromosome