Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation

• Published in: Gene Vol. 527; no. 2; pp. 578 - 583
• Main Authors: Ben Khelifa, Hela, Soyah, Najla, Ben-Abdallah-Bouhjar, Inesse, Gritly, Ryma, Sanlaville, Damien, Elghezal, Hatem, Saad, Ali, Mougou-Zerelli, Soumaya
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 25.09.2013
• Subjects: Adolescent; Chromosome Deletion; Chromosomes, Human, X; Comparative Genomic Hybridization; Female; Genomic rearrangements; Humans; Ichthyosis, X-Linked - genetics; In Situ Hybridization, Fluorescence; Male; Mental Retardation, X-Linked - genetics; Nuclear Proteins - genetics; Pedigree; Steryl-Sulfatase - genetics; STS deficiency; Whole genome analysis; ADHD; STS deficiency; FMR1; Whole genome analysis; CNV; VCX; STS; HDHD1A; XLI; KAL1; SHOX; CGH array; NAHR; VCX3B; VCX3A; NLGN4X; MR; DAPI; VCX2; XLMR; Genomic rearrangements; Mb; ND; FISH; PNPLA4; neuroligin 4, X-linked; nonallelic homologous recombination; mental retardation; copy number variation; short stature homeobox; patatin-like phospholipase domain containing 4; variable charge, X-linked 3A; X-linked ichthyosis; variable charge, X-linked 3B; fragile X mental retardation 1; 4,6 diamino-2-phenylindole; not determined; steroid sulfatase enzyme; Kallmann syndrome 1; haloacid dehalogenase-like hydrolase domain-containing 1; comparative genomic hybridization; variable charge, X-linked; fluorescence in situ hybridization; attention deficit-hyperactivity disorder; variable charge, X-linked 2; X-linked mental retardation; megabase
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2013.06.018

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 2Mb interstitial deletion on Xp22.3 involving VCX3A and STS genes. •We report on a boy suffering from X-linked ichthyosis and mental retardation.•The CGH array reveals an interstitial deletion at Xp22.3.•Maternal inheritance of the deleted copy of the STS gene.•The VCX3A gene could be a plausible gene responsible for mental retardation.