Mutation in CDMP1 Gene Causes Grebe-Type Chondrodysplasia
Author Information
Author(s): Basit Sulman, Naqvi Syed Kamran-ul-Hassan, Wasif Naveed, Ali Ghazanfar, Ansar Muhammad, Ahmad Wasim
Primary Institution: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan
Hypothesis
A novel insertion mutation in the CDMP1 gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.
Conclusion
The study identifies a 4 bp insertion mutation in the CDMP1 gene that is linked to Grebe-type chondrodysplasia.
Supporting Evidence
- The family demonstrated autosomal recessive Grebe-type chondrodysplasia.
- A novel four bases insertion mutation (1114insGAGT) was identified in the CDMP1 gene.
- The mutation was not found in normal individuals of the family or in a panel of unrelated unaffected controls.
Takeaway
This study found a change in a gene that causes a rare condition where people have very short limbs and fingers that look like toes.
Methodology
Genotyping and sequencing of the CDMP1 gene were performed on blood samples from affected and unaffected family members.
Limitations
Lack of skeletal radiographs for obligate carriers makes it difficult to exclude subtle skeletal deformities.
Participant Demographics
Pakistani family with two affected and four unaffected individuals.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website