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

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	167-170
Number of pages	4
Journal	Molecular Syndromology
Volume	10
Issue number	3
DOIs	https://doi.org/10.1159/000496553
Publication status	Published - May 2019

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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 journal › Article › peer-review

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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.",

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AU - Avendaño, Andrea

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AB - 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.

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