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

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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 - May 2019

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Cammarata-Scalisi, F., Matysiak, U., Velten, T., Callea, M., Araque, D., Willoughby, C. E., Galeotti, A., & Avendaño, A. (2019). A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1. Molecular Syndromology, 10(3), 167-170. https://doi.org/10.1159/000496553