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Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.
Wu H, Wang S, Li G, Yao Y, Wang N, Sun X, Fang L, Jiang X, Zhao J, Wang Y, Xu C. Wu H, et al. Mol Genet Genomic Med. 2021 May;9(5):e1668. doi: 10.1002/mgg3.1668. Epub 2021 Mar 25. Mol Genet Genomic Med. 2021. PMID: 33764685 Free PMC article. Review.
Whole-exome sequencing was applied for the genetic analysis, together with bioinformatic analysis of predicted consequences of the identified variant. A homotrimer model was built to visualize the affected region and predict possible outcomes of this variant. ...(Me …
Whole-exome sequencing was applied for the genetic analysis, together with bioinformatic analysis of predicted consequences of the id …
Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.
Kong L, Shi L, Wang W, Zuo R, Wang M, Kang Q. Kong L, et al. BMC Med Genet. 2019 Dec 19;20(1):200. doi: 10.1186/s12881-019-0937-1. BMC Med Genet. 2019. PMID: 31856751 Free PMC article.
The two novel substitution sites were highly conserved and the mutations were predicted to be deleterious by in silico analysis. Furthermore, protein modeling revealed that the two substitutions were located in the NC1 domain of collagen X (alpha1), which potentially impac …
The two novel substitution sites were highly conserved and the mutations were predicted to be deleterious by in silico analysis. Furt …
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M. Tüysüz B, et al. Bone. 2023 Feb;167:116614. doi: 10.1016/j.bone.2022.116614. Epub 2022 Nov 15. Bone. 2023. PMID: 36400164
Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hypoplasia (CHH). While immunodeficiency or recurrent infections were not observed, resistant congenital anemia was detected in one. Bia …
Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hyp …
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant.
Ain NU, Makitie O, Naz S. Ain NU, et al. J Med Genet. 2018 Jun;55(6):403-407. doi: 10.1136/jmedgenet-2017-104885. Epub 2017 Aug 22. J Med Genet. 2018. PMID: 28830906
BACKGROUND: Heterozygous mutations in COL10A1 underlie metaphyseal chondrodysplasia, Schmid type (MCDS), an autosomal dominant skeletal dysplasia. ...The individuals heterozygous for the variant had mild phenotype of short stature (adult heights 140-16 …
BACKGROUND: Heterozygous mutations in COL10A1 underlie metaphyseal chondrodysplasia, Schmid type (MCDS), an auto …