Department of Pediatrics, University of Kansas Medical Center, Kansas City, USA.
Am J Med Genet A. 2011 Jul;155A(7):1654-60. doi: 10.1002/ajmg.a.34080. Epub 2011 May 27.
The human 3q29 microdeletion syndrome is associated with mild facial dysmorphism, developmental delay and variable congenital malformations. We report three new unrelated patients with this syndrome. We also performed in silico RNA binding analysis in silico on the 3q29 critical region genes. Several genes within this genomic region including DLG1 and RNF168 are predicted to bind RNA. While recessive mutations in RNF168 cause RIDDLE syndrome, an immune deficiency and radiosensitivity disorder, the potential impact of heterozygous deletion of RNF168 on patients with the 3q29 deletion syndrome is still unknown.
人类 3q29 微缺失综合征与轻度面部畸形、发育迟缓以及多种先天性畸形有关。我们报道了 3 例新的不相关的该综合征患者。我们还对 3q29 关键区域基因进行了计算机 RNA 结合分析。该基因组区域内的多个基因，包括 DLG1 和 RNF168，被预测能与 RNA 结合。虽然 RNF168 的隐性突变会导致 RIDDLE 综合征，即一种免疫缺陷和辐射敏感性疾病，但 RNF168 的杂合性缺失对 3q29 缺失综合征患者的潜在影响仍不清楚。
