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Updated: Apr 11, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
Published on: December 18, 2019
[Kniest dysplasia due to mutation of COL2A1 gene]
Moling Wu1, Li Liu, Zhizi Zhou
1Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, P.R.China. liliuxia@hotmail.com.
Objective:
To detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.
Methods:
The 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.
Results:
A missense mutation (c.905C>T, p.Ala302Val) was found in the coding region of the COL2A1 gene, which has been previously reported in abroad. The patients appeared to have short trunk dwarfism, enlarged joints and midface hypoplasia.
Conclusion:
The probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation.
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