一例委内瑞拉的施密德型干骺端软骨发育不良病例，其伴有……中的一种新型突变
A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in .
作者信息
Cammarata-Scalisi Francisco, Matysiak Uta, Velten Tanja, Callea Michele, Araque Dianora, Willoughby Colin E, Galeotti Angela, Avendaño Andrea
机构信息
Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Los Andes, Mérida, Venezuela.
Center for Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
出版信息
Mol Syndromol. 2019 May;10(3):167-170. doi: 10.1159/000496553. Epub 2019 Feb 9.
Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the 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 gene.
施密德型干骺端软骨发育不良（MIM 156500）是一种罕见的常染色体显性骨骼发育不良，由编码X型胶原蛋白α1(X)链的基因（MIM 120110）中的杂合突变引起。我们报告了一名8岁女孩，她步态蹒跚、身材矮小、有轻度脊柱后凸、髋内翻、下肢短、股骨弓形、膝内翻以及干骺端磨损和增宽，是该基因第3外显子中一个新的杂合2碱基对（c.1894_1895dupTA；p.Leu633Thrfs*45）重复的携带者。
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