title: Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
abstract: 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.
authors.affiliation: Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia.
authors.forename: Hela
authors.initials: H
authors.lastname: Ben Khelifa
authors.forename: Najla
authors.initials: N
authors.lastname: Soyah
authors.forename: Inesse
authors.initials: I
authors.lastname: Ben-Abdallah-Bouhjar
authors.forename: Ryma
authors.initials: R
authors.lastname: Gritly
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: Hatem
authors.initials: H
authors.lastname: Elghezal
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
authors.forename: Soumaya
authors.initials: S
authors.lastname: Mougou-Zerelli
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D043266:Steryl-Sulfatase / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; C584038:VCX3A protein, human; C584039:STS protein, human; D043266:Steryl-Sulfatase
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