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[Novel mutation of Y271H in EXT1 gene causes multiple exostoses].

Authors: Li, Wei  Hu, Zheng-Mao  Xie, Zhi-Guo  He, Hong-Bo  Pan, Qian  Xia, Kun  Xia, Jia-Hui 
Citation: Li W, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Aug;32(4):546-50.
Pubmed: (View Article at PubMed) PMID:17767039


OBJECTIVE: To explore the disease associated gene mutation of multiple exostoses by family analysis.
METHODS: Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation.
RESULTS: We found a novel heterozygous mutation c.811T ->C in EXT1 gene of patients, which resulted in the substitution of histidine for tyrosine at codon 271 in this hereditary multiple exostoses family. The mutation was not found in the unaffected family members, nor in the 100 unrelated normal individual, which was unreported before.
CONCLUSION: The novel mutation Y271H is the disease-causing mutation in the hereditary multiple exostoses family.

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CRRD Object Information
CRRD ID: 13208236
Created: 2017-08-08
Species: All species
Last Modified: 2017-08-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.