X-linked ichthyosis (XLI), an inborn error of metabolism due to steroid sulfatase
deficiency [
[1]
], is caused by mutations in STS encoding the steroid sulfatase. About 90% of the XLI cases have genomic microdeletions
encompassing the STS locus [
[2]
]. Occasionally, STS deletions can extend to the neighboring genes, leading to a contiguous gene syndrome
that may combine the classical XLI with mental retardation, chondrodysplasia punctata,
Kallmann syndrome (KAL1), short stature, and/or ocular albinism type 1 [
[3]
].To read this article in full you will need to make a payment
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References
- X-linked ichthyosis due to steroid-sulphatase deficiency.Lancet. 1978; 1: 70-72
- Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with X recessive chromosome-linked ichthyosis.Proc Natl Acad Sci USA. 1987; 84: 9248-9251
- Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.Proc Natl Acad Sci USA. 1989; 86: 10001-10005
- Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.Hum Mol Genet. 2005; 14: 1795-1803
- A common sequence motif associated with recombination hot spots and genome instability in humans.Nat Genet. 2008; 40: 1124-1129
- Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements.Cell. 1990; 61: 603-610
- Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population.Mol Med. 2001; 7: 845-849
- Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulfatase gene.Clin Endocr. 1998; 48: 713-718
- Mechanisms for human genomic rearrangements.Pathogenetics. 2008; 1: 4
Article info
Publication history
Published online: July 12, 2010
Received:
March 25,
2009
Identification
Copyright
© 2009 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
