RT Journal Article SR Electronic T1 The C20orf133 gene is disrupted in a patient with Kabuki syndrome JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 562 OP 569 DO 10.1136/jmg.2007.049510 VO 44 IS 9 A1 Nicole M C Maas A1 Tom Van de Putte A1 Cindy Melotte A1 Annick Francis A1 Constance T R M Schrander-Stumpel A1 Damien Sanlaville A1 David Genevieve A1 Stanislas Lyonnet A1 Boyan Dimitrov A1 Koenraad Devriendt A1 Jean-Pierre Fryns A1 Joris R Vermeesch YR 2007 UL http://jmg.bmj.com/content/44/9/562.abstract AB Background: Kabuki syndrome (KS) is a rare, clinically recognisable, congenital mental retardation syndrome. The aetiology of KS remains unknown. Methods: Four carefully selected patients with KS were screened for chromosomal imbalances using array comparative genomic hybridisation at 1 Mb resolution. 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 hybridisation 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. Conclusion: 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 patients with KS suggest that KS is genetically heterogeneous.