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

Biomedical Sciences Research

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

14 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 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 (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.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

COL10A1 mutation
Schmid-type metaphyseal chondrodysplasia

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10.1159/000496553

Cite this

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title = "A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1",

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",

author = "Francisco Cammarata-Scalisi and Uta Matysiak and Tanja Velten and Michele Callea and Dianora Araque and Willoughby, \{Colin E.\} and Angela Galeotti and Andrea Avenda{\~n}o",

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language = "English",

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journal = "Molecular Syndromology",

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T1 - A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

AU - Cammarata-Scalisi, Francisco

AU - Matysiak, Uta

AU - Velten, Tanja

AU - Callea, Michele

AU - Araque, Dianora

AU - Willoughby, Colin E.

AU - Galeotti, Angela

AU - Avendaño, Andrea

PY - 2019/2/2

Y1 - 2019/2/2

N2 - 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.

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.

KW - COL10A1 mutation

KW - Schmid-type metaphyseal chondrodysplasia

UR - https://www.scopus.com/pages/publications/85061644145

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DO - 10.1159/000496553

M3 - Article

AN - SCOPUS:85061644145

SN - 1661-8769

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JO - Molecular Syndromology

JF - Molecular Syndromology

IS - 3

ER -

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

Abstract

Bibliographical note

UN SDGs

Keywords

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