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 2013-09, Vol.527 (2), p.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: Article
• Language: English
• 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
• 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.