期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 155A, 期 12, 页码 2997-3001出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.34324
关键词
HOX; HOXC; array-CGH; kyphoscoliosis; multiple synostosis syndrome
资金
- Ministry of Health, Labour, and Welfare in Japan
- Grants-in-Aid for Scientific Research [21591334, 22890199] Funding Source: KAKEN
We report on a patient with a submicroscopic deletion of 12q13 detected by array-CGH and confirmed by FISH. He was haploinsufficient for the HOXC gene cluster and some other neighboring genes. HOX genes have an important role in the initial formation of the body. The patient showed characteristic features including severe kyphoscoliosis, digital abnormalities, cardiac anomaly, expressive language, and global developmental delay. Radiologic features of the fingers had some similarities with those for multiple synostosis syndrome. No human genetic disorders due to HOXC abnormalities are yet known. We tentatively assume that his skeletal anomalies are associated with haploinsufficiency of the HOXC gene cluster. Further studies are necessary to determine the clinical importance of haploinsufficiency of the HOXC gene cluster. (C) 2011 Wiley Periodicals, Inc.
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