RGD Reference Report - [Novel mutation of Y271H in EXT1 gene causes multiple exostoses]. - Rat Genome Database

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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.
RGD ID: 13208236
Pubmed: PMID:17767039   (View Abstract at PubMed)


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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
EXT1Humanhereditary multiple exostoses  ISOExt1 (Mus musculus) RGD 
EXT1Humanhereditary multiple exostoses  IAGP DNA:missense mutation:cds:p.Y271H (human)RGD 
Ext1Mousehereditary multiple exostoses  ISOEXT1 (Homo sapiens)DNA:missense mutation:cds:p.Y271H (human)RGD 
Ext1Mousehereditary multiple exostoses  IMP  RGD 
Ext1Rathereditary multiple exostoses  ISOEXT1 (Homo sapiens)DNA:missense mutation:cds:p.Y271H (human)RGD 
Ext1Rathereditary multiple exostoses  ISOExt1 (Mus musculus) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ext1  (exostosin glycosyltransferase 1)

Genes (Mus musculus)
Ext1  (exostosin glycosyltransferase 1)

Genes (Homo sapiens)
EXT1  (exostosin glycosyltransferase 1)


Additional Information