X-linked ichthyosis (XLI), an inborn error of metabolism due to steroid sulfatase deficiency [
], is caused by mutations in STS encoding the steroid sulfatase. About 90% of the XLI cases have genomic microdeletions encompassing the STS locus [
- Webster D.
- France J.T.
- Shapiro L.J.
- Weiss R.
X-linked ichthyosis due to steroid-sulphatase deficiency.
Lancet. 1978; 1: 70-72
]. 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 [
- Bonifas J.M.
- Morley B.J.
- Okey R.E.
- Kan Y.W.
- Epstein Jr., E.H.
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
- Ballabio A.
- Bardoni B.
- Carrozzo R.
- Andria G.
- Bick D.
- Campbell L.
- et al.
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
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Journal of Dermatological Science
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- 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
Published online: July 12, 2010
Received: March 25, 2009
© 2009 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.