Clinical Genetics
Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene
Jia Haiting, Wang Chunhua, Liu Yi
Published 2022-10-10
Cite as Chin J Med Genet, 2022, 39(10): 1140-1144. DOI: 10.3760/cma.j.cn511374-20210920-00763
Abstract
ObjectiveTo analyze the clinical and genetic characteristics of a child with mucopolysaccharidoses type I.
MethodsEnzymatic 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.
ResultsThe 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.
ConclusionThe 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.
Key words:
Mucopolysaccharidoses type I; IDUA gene; Genetic testing
Contributor Information
Jia Haiting
Department of Orthopedic Trauma Surgery, Qilu Children′s Hospital of Shandong University, Jinan, Shandong 250022, China
Wang Chunhua
Department of Orthopedic Trauma Surgery, Qilu Children′s Hospital of Shandong University, Jinan, Shandong 250022, China
Liu Yi
Jinan Pediatric Research Institute, Qilu Children′s Hospital of Shandong University, Jinan, Shandong 250022, China
