Maas Nicole M C, Van de Putte Tom, Melotte Cindy, Francis Annick, Schrander-Stumpel Constance T R M, Sanlaville Damien, Genevieve David, Lyonnet Stanislas, Dimitrov Boyan, Devriendt Koenraad, Fryns Jean-Pierre, Vermeesch Joris R
Centre for Human Genetics, University of Leuven, Leuven, Belgium.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.06.2009.1994. Epub 2009 Jun 30.
Kabuki syndrome (KS) is a rare, congenital mental retardation syndrome. The aetiology of KS remains unknown. Four carefully selected patients with KS were screened for chromosomal imbalances using array comparative genomic hybridisation at 1 Mb resolution. 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. 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.
歌舞伎综合征（KS）是一种罕见的先天性智力发育迟缓综合征。KS的病因尚不清楚。使用分辨率为1 Mb的阵列比较基因组杂交技术，对4例精心挑选的KS患者进行了染色体失衡筛查。在1例患者中，检测到20p12.1处有一个250 kb的新生微缺失，该缺失删除了C20orf133的第5外显子。该基因的功能尚不清楚。与C20orf133的小鼠同源基因进行原位杂交显示，其表达主要在脑中。该缺失的新生性质、表达数据以及C20orf133带有一个大结构域这一事实，表明该基因在染色质生物学中发挥作用，这使得该基因很可能是导致该KS患者出现表型的候选基因。KS患者中发现不同的染色体重排，以及另外19例KS患者中未发现C20orf133突变，这两者均提示KS在遗传上具有异质性。
