Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan.
J Hum Genet. 2010 Apr;55(4):244-7. doi: 10.1038/jhg.2010.14. Epub 2010 Mar 26.
By using an in-house bacterial artificial chromosome-based X-tilling array, we detected a 0.4 Mb novel deletion at Xq24 that included UBE2A in a 4-year-old and 10-month-old boy with mental retardation and various other characteristics inherited from his mother; for example, marked developmental delay, synophrys, ocular hypertelorism, esotropia, low nasal bridge, marked generalized hirsutism and seizure. Although additional nine transcripts around UBE2A were also defective, a phenotypic similarity with a recently reported X-linked familial case involving a novel X-linked mental retardation syndrome and a nonsense mutation of UBE2A indicates a functional defect of UBE2A to be responsible for most of the abnormalities in these cases. Because some characteristics, such as congenital heart disease and proximal placement of the thumb, were not described in the family reported previously, suggesting genes other than UBE2A within the deleted region to be responsible for those abnormalities.
利用基于细菌人工染色体的 X 染色体靶向芯片，我们在一名 4 岁 10 个月大的男孩中检测到 Xq24 处的一个 0.4Mb 新型缺失，该男孩存在精神发育迟滞和其他从母亲遗传而来的特征，如明显的发育迟缓、连心眉、眼球突出、斜视、鼻梁低平、明显的全身性多毛症和癫痫发作。尽管 UBE2A 周围的另外 9 个转录本也存在缺陷，但与最近报道的一个涉及新型 X 连锁智力发育迟缓综合征和 UBE2A 无义突变的 X 连锁家族病例的表型相似性表明，UBE2A 的功能缺陷是这些病例中大多数异常的原因。由于以前报道的家族中没有描述一些特征，如先天性心脏病和拇指近端位置，这表明缺失区域内除 UBE2A 以外的其他基因可能导致这些异常。
