Introduction: The Kabuki syndrome (KS) is a rare clinically recognizable congenital mental retardation syndrome. The aetiology of KS remains unknown.
Methods: Four carefully selected KS patients were screened for chromosomal imbalances using array comparative genomic hybridisation (CGH) at 1 Mb resolution. Mutation analysis of C10orf133, a candidate gene, was performed in 19 Kabuki patients and expression analysis of candidate gene was performed during mice development.
Results: In one patient, a 250 kb de novo microdeletion at 20p12.1 was detected, deleting exon 5 of C20orf133. The function of this gene is unknown. In situ hybridization with the mouse orthologue of C20orf133 showed expression mainly in brain, but also in kidney, eye, inner ear, ganglia of the peripheral nervous system and lung.
Discussion: The de novo nature of the deletion, the expression data and the fact that C20orf133 carries a macro domain, suggesting a role for the gene in chromatin biology, make the gene a likely candidate to cause the phenotype in this patient with KS. Both the finding of different of chromosomal rearrangements in patients with KS features and the absence of C20orf133 mutations in 19 additional KS patients suggest that KS is genetically heterogeneous.
- Kabuki syndrome
- array CGH
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.