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Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
Ngoc Thi Bich Can1, Dien Minh Tran1, Thao Phuong Bui1
1Vietnam National Children's Hospital, 18/879 Lathanh, Dongda, Hanoi 100000, Vietnam.
Abstract:
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the α-L-iduronidase (IDUA) gene. Until now, MPS I in Vietnamese has been poorly addressed. Five MPS I patients were studied with direct DNA sequencing using Illumina technology confirming pathogenic variants in the IDUA gene. Clinical characteristics, additional laboratory results, and family history were collected. All patients have presented with the classical characteristic of MPS I, and α-L-iduronidase activity was low with the accumulation of glycosaminoglycans. Three variants in the IDUA gene (c.1190-10C>A (Intronic), c.1046A>G (p.Asp349Gly), c.1862G>C (p.Arg621Pro) were identified. The c.1190-10C>A variant represents six of the ten disease alleles, indicating a founder effect for MPS I in the Vietnamese population. Using biochemical and genetic analyses, the precise incidence of MPS I in this population should accelerate early diagnosis, newborn screening, prognosis, and optimal treatment.
Insights
This study identifies three pathogenic variants in the alpha-L-iduronidase (IDUA) gene in Vietnamese Mucopolysaccharidosis type I (MPS I) patients. A founder effect for the c.1190-10C>A variant was observed in the Vietnamese population.
Area of Science:
- Genetics
- Biochemistry
- Rare Diseases
Background:
- Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder.
- The alpha-L-iduronidase (IDUA) gene is responsible for MPS I.
- MPS I in the Vietnamese population has been understudied.
Purpose of the Study:
- To investigate the genetic basis of MPS I in Vietnamese patients.
- To identify pathogenic variants in the IDUA gene.
- To understand the prevalence and characteristics of MPS I in Vietnam.
Main Methods:
- Direct DNA sequencing using Illumina technology.
- Analysis of clinical characteristics, laboratory results, and family history.
- Biochemical assays for enzyme activity and glycosaminoglycan levels.
Main Results:
- Five MPS I patients were identified with pathogenic variants in the IDUA gene.
- Three novel variants were identified: c.1190-10C>A (Intronic), c.1046A>G (p.Asp349Gly), and c.1862G>C (p.Arg621Pro).
- The c.1190-10C>A variant showed a founder effect, representing 60% of disease alleles in the study population.
Conclusions:
- Genetic and biochemical analyses confirm MPS I in Vietnamese patients.
- The identified IDUA variants contribute to MPS I pathogenesis.
- Understanding these variants and founder effects can improve early diagnosis and management of MPS I in Vietnam.
