Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia
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目的 分析1例Schmid型干骺端软骨发育异常(SMCD)患儿的临床特征和基因型。 方法 收集于2021年10月就诊于郑州大学附属儿童医院的SMCD患儿的病史和家族史，并对其进行详细的临床检查。对患儿进行高通量测序分析，并用Sanger测序法对候选变异进行家系验证。 结果 全外显子组测序提示患儿的COL10A1基因存在c.1772G>A(p.C591Y)错义变异，Sanger测序证实其父母均未携带相同的变异，提示其为新发，在HGMD及ClinVar数据库中均未见该位点的记录。根据ACMG指南，判断其为可能致病性变异(PM2_Supporting+PM5+PM6+PP3+PP4)。 结论 COL10A1基因c.1772G>A(p.C591Y)变异可能为该SMCD患儿的遗传学病因，基因检测为该家系的遗传咨询和产前诊断提供了依据。该变异的发现丰富了COL10A1基因的变异谱。 Objective To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia. Methods Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members. Results Whole exome sequencing revealed that the child has harbored a heterozygous c. 1772G>A (p.C591Y) variant of theCOL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic(PM2_Supporting+ PM5+ PM6+ PP3+ PP4)based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion The heterozygous c. 1772G>A (p.C591Y) variant of theCOL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene.
Objective To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia. Methods Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members. Results Whole exome sequencing revealed that the child has harbored a heterozygous c. 1772G>A (p.C591Y) variant of theCOL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic(PM2_Supporting+ PM5+ PM6+ PP3+ PP4)based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion The heterozygous c. 1772G>A (p.C591Y) variant of theCOL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene.
Schmid type metaphyseal chondrodysplasiaCOL10A1 geneGenetic variantDe novo variant
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