scholarly journals Novel deletion and 2397 G>T mutations of the EXT1 gene identified in two Chinese pedigrees with hereditary multiple exostoses using exon sequencing

2020 ◽  
Vol 9 (5) ◽  
pp. 619-628
Author(s):  
Yang Shen ◽  
Lei Zhang ◽  
Bosong Chen ◽  
Liangchao Dong ◽  
Yicheng Wang ◽  
...  
Keyword(s):  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses ◽  
Ext1 Gene

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene

2008 ◽  
Vol 36 (4) ◽  
pp. 661-667 ◽  
Author(s):  
Sana Sfar ◽  
Abderrazak Abid ◽  
Wijden Mahfoudh ◽  
Houyem Ouragini ◽  
Farah Ouechtati ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Hereditary Multiple Exostoses ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Multiple Exostoses ◽  
Ext1 Gene

A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree

Pathology ◽  
2010 ◽  
Vol 42 (1) ◽  
pp. 91-93
Author(s):  
Yuchan Li ◽  
Jian Wang ◽  
Huaiyuan Li ◽  
Jing Wang ◽  
Xuefeng Wang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses ◽  
Ext1 Gene

Magnetic Resonance Imaging in Symptomatic Children With Hereditary Multiple Exostoses of the Hip

2018 ◽  
Vol 38 (2) ◽  
pp. 116-121 ◽  
Author(s):  
Maria d.P. Duque Orozco ◽  
Oussama Abousamra ◽  
Kenneth J. Rogers ◽  
Mihir M. Thacker
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Resonance Imaging ◽  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses

scholarly journals Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation Spectrum

2021 ◽  
Author(s):  
yanhan deng ◽  
yujian liu ◽  
wei tu ◽  
liu yang
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Mutation Spectrum ◽  
Loss Of Function ◽  
Site Mutation ◽  
Hereditary Multiple Exostoses ◽  
Multiple Osteochondromas ◽  
Online Databases ◽  
Whole Exome ◽  
Multiple Exostoses

Abstract Background: Hereditary Multiple Osteochondromas(HMO) is a rare genetic musculoskeletal disorder characterized by multiple osteochondromas that form near to the growth plates of many bones. Loss-of-function mutations in EXT1 or EXT2 that encode glycosyltrasferases are the causal mutations for most HMO patients.Methods: After collecting the family history and clinical information, we used Whole-Exome Sequencing to find the pathogenic mutations in one Chinese Hereditary Multiple Exostoses pedigree. Sanger sequencing and relevant online databases were used to validate the screened variants. Lollipop plots were drew to map the reported mutations from online databases (Multiple Osteochondroma Mutation Database and clinvar)on a linear protein domains by MutationMapper.Results: A novel heterozygous splicing-site mutation in gene EXT1 (NM_000127:exon5:c.1417+1G>C，chr8:118834703) was found in this pedigree and mutation spectrum of genes EXT1 and EXT2 were demonstrated.Conclusions: Our results help this pedigree to identify the pathogenic variant and guide the prenatal diagnosis, also expand the mutation spectrum in Hereditary Multiple Osteochondromas.

Hereditary Multiple Exostoses. A Rare Cause of Arterial Insufficiency

Angiology ◽  
1983 ◽  
Vol 34 (5) ◽  
pp. 362-366 ◽  
Author(s):  
A. Norton de Matos ◽  
J. Mergulhão Mendonça ◽  
M. Caetano Pereira
Keyword(s):  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses ◽  
Arterial Insufficiency
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