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 journalArticle

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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Genu Varum
Coxa Vara
Collagen Type X
Mutation
Scoliosis
Gait
Femur
Genes
Lower Extremity
Exons
Metaphyseal chondrodysplasia Schmid type

Cite this

Cammarata-Scalisi, F., Matysiak, U., Velten, T., Callea, M., Araque, D., Willoughby, C. E., ... 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

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1. / Cammarata-Scalisi, Francisco; Matysiak, Uta; Velten, Tanja; Callea, Michele; Araque, Dianora; Willoughby, Colin E; Galeotti, Angela; Avendaño, Andrea.

In: Molecular Syndromology, Vol. 10, No. 3, 05.2019, p. 167-170.

Research output: Contribution to journalArticle

Cammarata-Scalisi, F, Matysiak, U, Velten, T, Callea, M, Araque, D, Willoughby, CE, Galeotti, A & Avendaño, A 2019, 'A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1', Molecular Syndromology, vol. 10, no. 3, pp. 167-170. https://doi.org/10.1159/000496553
Cammarata-Scalisi, Francisco ; Matysiak, Uta ; Velten, Tanja ; Callea, Michele ; Araque, Dianora ; Willoughby, Colin E ; Galeotti, Angela ; Avendaño, Andrea. / A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1. In: Molecular Syndromology. 2019 ; Vol. 10, No. 3. pp. 167-170.
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