RGD Reference Report - Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses. - Rat Genome Database

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Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.

Authors: Cao, Li  Liu, Fei  Kong, Mingxiang  Fang, Yong  Gu, Haifeng  Chen, Yu  Zhao, Chen  Zhang, Shuijun  Bi, Qing 
Citation: Cao L, etal., Oncol Rep. 2014 Feb;31(2):713-8. doi: 10.3892/or.2013.2891. Epub 2013 Dec 2.
RGD ID: 13208229
Pubmed: PMID:24297320   (View Abstract at PubMed)
DOI: DOI:10.3892/or.2013.2891   (Journal Full-text)

Hereditary multiple exostoses (HME) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors. EXT1 located on chromosome 8q23-q24 and EXT2 located on 11p11-p12 are the main disease-causing genes which are responsible for ~90% of HME cases. Mutations of EXT1 or EXT2 result in insufficient heparan sulfate biosynthesis, which facilitates chondrocyte proliferation, boosts abnormal bone growth of neighboring regions, causes multiple exostoses, and ultimately leads to possible malignant transformation. A family who displayed typical features of HME was enrolled in the present study. Mutation screening by Sanger sequencing identified a novel heterozygous nonsense mutation c.1902C>A (p.Tyr634X) in the EXT1 gene exclusively in all 3 patients, which is located in the glycosyltransferase domain and results in the truncation of 112 amino acids at the C-terminus of the EXT1 protein. Thus, the present study identified a novel disease-causing EXT1 mutation in a pedigree with HME, which provides additional evidence for developing quick and accurate genetic tools for HME diagnosis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hereditary multiple exostoses  IAGP 13208229DNA:nonsense mutation:cds:p.Y634X (human)RGD 
hereditary multiple exostoses  ISOEXT1 (Homo sapiens)13208229; 13208229DNA:nonsense mutation:cds:p.Y634X (human)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