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Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma
Xue Wang1, Lin Li, Jiangxia Li
1Key Laboratory for Experimental Teratology of the Ministry of Education, Department of Medical Genetics, Shandong University School of Medicine, Jinan, Republic of China.
Abstract:
Multiple osteochondroma (MO) is an autosomal dominant disease characterized by abnormal skeleton development: one or more exostoses localized mainly at the end of long bones. Three pathogenic gene loci have been identified and cloned: EXT1, 2, and 3. Only EXT1 and 2 mutations were reported to cause MO. Here, we report on a large Chinese family with MO and a disease-causing mutation in EXT. We extracted DNA from peripheral blood samples of 25 family members, 9 with MO. Polymerase chain reaction and direct DNA sequencing of the entire coding regions of EXT1 and 2 for the nine patients revealed a novel pathogenic mutation, insertion of a T in exon 2 (c.72-73 insT) of EXT2. Our results extend the mutational spectrum of MO and can help with genetic counseling and prenatal diagnosis for this family.
Insights
Multiple osteochondroma (MO), an inherited skeletal disorder, is linked to EXT gene mutations. This study identified a new EXT2 gene mutation in a Chinese family, aiding genetic diagnosis for this rare condition.
Area of Science:
- Genetics
- Skeletal Dysplasias
- Molecular Biology
Background:
- Multiple osteochondroma (MO) is an autosomal dominant skeletal disorder.
- Characterized by multiple exostoses, primarily on long bones.
- Pathogenic mutations in EXT1 and EXT2 genes are known causes of MO.
Purpose of the Study:
- To identify the genetic cause of MO in a large Chinese family.
- To expand the known spectrum of mutations associated with MO.
Main Methods:
- DNA extraction from peripheral blood of 25 family members (9 affected).
- Polymerase chain reaction and direct DNA sequencing of EXT1 and EXT2 coding regions.
- Analysis of affected individuals to identify pathogenic mutations.
Main Results:
- A novel pathogenic mutation, c.72-73 insT (insertion of T in exon 2), was identified in the EXT2 gene.
- This mutation was found in affected members of the Chinese family.
- Confirms EXT2 as a causative gene for MO in this cohort.
Conclusions:
- The identified EXT2 mutation expands the known mutational spectrum for multiple osteochondroma.
- This finding is crucial for genetic counseling and prenatal diagnosis for affected families.
- Highlights the importance of comprehensive genetic analysis in skeletal dysplasias.
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