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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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2015.03.004 | DOI Listing |
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