A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

Francisco Cammarata-Scalisi, Uta Matysiak, Tanja Velten, Michele Callea, Dianora Araque, Colin E. Willoughby, Angela Galeotti, Andrea Avendaño

    Research output: Contribution to journalArticlepeer-review

    3 Citations (Scopus)

    Abstract

    Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL10A1 gene (MIM 120110) encoding the α1(X) chains of type X collagen. We report an 8-year-old girl with waddling gait, short stature, mild dorsal scoliosis, coxa vara, short lower limbs, bowing of the femurs, genu varum, and metaphyseal fraying and splaying, who is a carrier of a novel heterozygous 2-bp (c.1894-1895dupTA; p.Leu633Thrfs∗45) duplication in exon 3 of the COL10A1 gene.

    Original languageEnglish
    Pages (from-to)167-170
    Number of pages4
    JournalMolecular Syndromology
    Volume10
    Issue number3
    DOIs
    Publication statusPublished - 2 Feb 2019

    Keywords

    • COL10A1 mutation
    • Schmid-type metaphyseal chondrodysplasia

    Fingerprint

    Dive into the research topics of 'A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1'. Together they form a unique fingerprint.

    Cite this