桑格测序
复合杂合度
外显子组测序
I型粘多糖病
遗传学
基因
先证者
遗传咨询
医学
生物
等位基因
突变
疾病
酶替代疗法
内科学
作者
haiting jia,Chunhua Wang,Yi Liu
出处
期刊:PubMed
日期:2022-10-10
卷期号:39 (10): 1140-1144
标识
DOI:10.3760/cma.j.cn511374-20210920-00763
摘要
To analyze the clinical and genetic characteristics of a child with mucopolysaccharidoses type I.Enzymatic and genetic testing were carried out for the child who was admitted due to contraction of fingers and flexion deformity of lower limbs. The child was subjected to target exome capture sequencing. Candidate variants were verified by Sanger sequencing of the child, her parents and two sisters.The child had featured facial dysmorphism, short stature, round head, short neck, corneal turbidity and skeletal deformity. Enzyme test was positive, and genetic testing revealed that she had harbored c.1049delA (p.N350Mfs*4) and c.1815dupT (p.V606Cfs*53) compound heterozygous variants of the IDUA gene, which were inherited from her mother and father, respectively. Her two sisters had each carried one of above variants. c.1815dupT was known to be pathogenic, whilst c.1049delA was not reported in Human Gene Mutation Database.The compound heterozygous variants of the IDUA gene probably underlay the disease in this child, among which the c.1049delA (p.N350Mfs*4) is unreported previously.
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