A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1
| Autor: | Uta Matysiak, Angela Galeotti, Colin E. Willoughby, Dianora Araque, Tanja Velten, Michele Callea, Francisco Cammarata-Scalisi, Andrea Avendaño |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0303 health sciences
congenital hereditary and neonatal diseases and abnormalities Metaphyseal chondrodysplasia 030305 genetics & heredity Genu varum Coxa vara Anatomy Scoliosis Biology medicine.disease Short stature 03 medical and health sciences Exon Dysplasia Novel Insights from Clinical Practice Gene duplication Genetics medicine medicine.symptom Genetics (clinical) 030304 developmental biology |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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