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 | |
| 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
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TY - JOUR
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 - 2019/5
Y1 - 2019/5
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.
U2 - 10.1159/000496553
DO - 10.1159/000496553
M3 - Article
C2 - 31191206
VL - 10
SP - 167
EP - 170
JO - Molecular Syndromology
JF - Molecular Syndromology
SN - 1661-8769
IS - 3
ER -