Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation
Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation
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DOI：
10.1038/jhg.2010.14
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发表时间：
2010-04-01
影响因子：
3.5
通讯作者：
Inazawa, Johji
中科院分区：
文献类型：
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作者：
Honda, Shozo;Orii, Koji O.;Inazawa, Johji
通过使用内部细菌人工染色体为基础的X-tilling阵列，我们发现了一个0.4 Mb的新的缺失Xq 24，其中包括UBE 2A在4岁和10个月大的男孩与智力低下和各种其他特征继承了他的母亲，例如，显着的发育迟缓，synophrys，眼距过远，内斜视，低鼻梁，显着的全身多毛症和癫痫发作。虽然UBE 2A周围的其他9个转录本也有缺陷，但与最近报道的一个涉及新型X连锁精神发育迟滞综合征和UBE 2A无义突变的X连锁家族性病例的表型相似性表明UBE 2A的功能缺陷是这些病例中大多数异常的原因。因为一些特征，如先天性心脏病和拇指近端位置，在以前报道的家族中没有描述，这表明缺失区域内UBE 2A以外的基因是导致这些异常的原因。Journal of Human Genetics（2010）55，244-247; doi：10.1038/jhg.2010.14; 2010年3月26日在线发表
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. Journal of Human Genetics ( 2010) 55, 244-247; doi:10.1038/jhg.2010.14; published online 26 March 2010