X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patients with more complex disorders including mental retardation could be present as a result of contiguous gene deletion. In fact, VCX3A gene, a member of the VCX (variable charge, X chromosome) gene family, was previously proposed as the candidate gene for X-linked non-specific mental retardation in patients with X-linked ichthyosis. We report on a boy with familial ichthyosis, dysmorphic features and moderate mental retardation with approximately 2 Mb interstitial deletion on Xp22.3 involving VCX3A and STS genes.
Keywords: 4,6 diamino-2-phenylindole; ADHD; CGH array; CNV; DAPI; FISH; FMR1; Genomic rearrangements; HDHD1A; KAL1; Kallmann syndrome 1; MR; Mb; NAHR; ND; NLGN4X; PNPLA4; SHOX; STS; STS deficiency; VCX; VCX2; VCX3A; VCX3B; Whole genome analysis; X-linked ichthyosis; X-linked mental retardation; XLI; XLMR; attention deficit-hyperactivity disorder; comparative genomic hybridization; copy number variation; fluorescence in situ hybridization; fragile X mental retardation 1; haloacid dehalogenase-like hydrolase domain-containing 1; megabase; mental retardation; neuroligin 4, X-linked; nonallelic homologous recombination; not determined; patatin-like phospholipase domain containing 4; short stature homeobox; steroid sulfatase enzyme; variable charge, X-linked; variable charge, X-linked 2; variable charge, X-linked 3A; variable charge, X-linked 3B.
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