Schmid型干骺端软骨发育异常患儿1例的临床及分子遗传学分析  

Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia

作　　者：董孝云 郑璇 林法涛 方拴锋 董慧[1] 王少雯 Dong Xiaoyun;Zheng Xuan;Lin Fatao;Fang Shuanfeng;Dong Hui;Wang Shaowen(Department of Child Health Care,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou,Henan 450000,China;Institute of Pediatrics,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou,Henan 450000,China;Department of Neonatal Medicine,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou,Henan 450000,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院儿童保健科,郑州450000 [2]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院儿研所,郑州450000 [3]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院新生儿内科,郑州450000

出　　处：《中华医学遗传学杂志》2023年第7期856-859,共4页Chinese Journal of Medical Genetics

基　　金：河南省科技攻关计划(182102310415)。

摘　　要：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 the COL10A1 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 the COL10A1 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.

关 键 词：Schmid型干骺端软骨发育异常 COL10A1基因 基因变异 新发变异 

分 类 号：R725.9[医药卫生—儿科]