These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


PUBMED FOR HANDHELDS

Search MEDLINE/PubMed


  • Title: [Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita].
    Author: Wang Y, Xiao H, Wang Z, Zhao N, Xue Y.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul 10; 36(7):694-696. PubMed ID: 31302913.
    Abstract:
    OBJECTIVE: To explore the molecular basis for a pedigree affected with spondyloepiphyseal dysplasia congenita (SEDC). METHODS: The proband was subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing. RESULTS: All patients from the pedigree were found to carry a novel missense variant c.1394G>C (p.Gly465Ala) of the COL2A1 gene. The variant was not reported previously. Provean, Polyphen-2 and Mutation Taster software predicted that the variant is highly likely to be pathogenic. CONCLUSION: The c.1394G>C (p.Gly465Ala) variant of the COL2A1 gene probably underlies the SEDC in this pedigree.
    [Abstract] [Full Text] [Related] [New Search]