期刊
JOURNAL OF HUMAN GENETICS
卷 55, 期 4, 页码 244-247出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2010.14
关键词
array CGH; BAC; deletion; UBE2A; XLMR; X tiling array
资金
- Ministry of Education, Culture, Sports, Science and Technology, Japan
- New Energy and Industrial Technology Development Organization (NEDO)
- Ministry of Health, Labour and Welfare, Japan
- Japan Society for the Promotion of Science (JSPS)
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
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