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

    13 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 (in print/issue) - 2 Feb 2019

    Bibliographical note

    Publisher Copyright:
    © 2018 S. Karger AG, Basel. All rights reserved.

    Copyright:
    Copyright 2019 Elsevier B.V., All rights reserved.

    Keywords

    • COL10A1 mutation
    • Schmid-type metaphyseal chondrodysplasia

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