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

doi:10.1159/000496553

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

Mol Syndromol. 2019 May;10(3):167-170. doi: 10.1159/000496553. Epub 2019 Feb 9.

Authors

Francisco Cammarata-Scalisi¹, Uta Matysiak², Tanja Velten², Michele Callea³, Dianora Araque¹, Colin E Willoughby⁴, Angela Galeotti³, Andrea Avendaño¹

Affiliations

¹ Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Los Andes, Mérida, Venezuela.
² Center for Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
³ Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁴ Biomedical Sciences Research Institute, Ulster University, Coleraine, Northern Ireland, UK.

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.

Keywords: COL10A1 mutation; Schmid-type metaphyseal chondrodysplasia.

Publication types

Case Reports