青岛大学学报（医学版）2026，Vol.62Issue(3)：435-438,4.DOI:10.11712/jms.2096-5532.2026.62.011
黏多糖贮积症Ⅰ型病儿1例基因突变分析
Gene mutations in mucopolysaccharidosis type Ⅰ:a case report
摘要
Abstract
Objective To investigate the gene mutations in a child with mucopolysaccharidosis type Ⅰ(MPS Ⅰ),as well as the relationship between the gene mutations and phenotypes of this disease.Methods Peripheral venous blood was collected from a child with MPS Ⅰ and the parents,and whole genomic DNA was extracted for whole exome sequencing(WES)to identify the highly suspicious mutations associated with the disease phenotype,while Sanger sequencing was used for validation in the sam-ples from the parents.Results WES showed a double heterozygous mutation in the IDUA gene in the child,i.e.,exon 1-2 dele-tion/c.1049delA,which was inherited from the father and the mother,respectively.According to the guidelines of the American College of Medical Genetics and Genomics(ACMG),the mutation was identified as the pathogenic mutation of PVS1+PM3-Strong+PM2 and PVS1+PM2+PM3,and there were no significant abnormalities in the full length of the mitochondrial loop gene.The child had a history of hydrocephalus surgery,with lesions in multiple organs including hypertrophic cardiomyopathy,ab-dominal effusion,cranial malformations,and malformations in the spine and extremities.Conclusion This study identifies a compound heterozygous mutation in a child with MPS Ⅰ,which provides an important basis for enriching the relationship between genotype and phenotype and helps to deepen the understanding of this disease.关键词
黏多糖累积病Ⅰ型/艾杜糖醛酸酶/序列缺失/突变/全外显子组测序Key words
mucopolysaccharidosis Ⅰ/iduronidase/sequence deletion/mutation/whole exome sequencing分类
医药卫生引用本文复制引用
尹晓琳,侯华彬,徐龙强,刘佶,段亚楠,刘世国..黏多糖贮积症Ⅰ型病儿1例基因突变分析[J].青岛大学学报（医学版）,2026,62(3):435-438,4.基金项目
国家自然科学基金项目(82071683) （82071683）
