The C20orf133 gene is disrupted in a patient with Kabuki syndrome
The C20orf133 gene is disrupted in a patient with Kabuki syndrome
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DOI：
10.1136/jmg.2007.049510
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发表时间：
2007-09-01
影响因子：
4
通讯作者：
Vermeesch, Joris R.
中科院分区：
文献类型：
--
作者：
Maas, Nicole M. C.;de Putte, Tom Van;Vermeesch, Joris R.
背景：歌舞伎综合征（KS）是一种罕见的、临床上可识别的先天性智力低下综合征。KS的病因仍然unknow.Methods：四个精心挑选的KS患者进行了筛选染色体不平衡使用阵列比较基因组杂交在1 Mb resolution.Results：在一个病人，250 kb的从头微缺失在20 p12.1被检测到，删除C20orf133的外显子5。该基因的功能尚不清楚。与小鼠直系同源物C20orf133的原位杂交显示其主要在脑中表达，但也在肾、眼、内耳、周围神经系统的神经节和肺中表达。缺失的从头性质、表达数据和C20orf133携带宏结构域的事实表明该基因在染色质生物学中的作用，使该基因成为导致该KS患者表型的可能候选基因。在KS患者中发现不同的染色体重排特征，以及在另外19例KS患者中没有C20orf133突变，表明KS是遗传异质性的。
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.