Whole paternal uniparental disomy of chromosome 4 with a novel homozygous <i>IDUA</i> splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I
This study describes a rare autosomal recessive disorder with paternal UPD of chromosome 4 leading to the homozygosity of the IDUA splicing variant in patients with MPS-I for the first time. This study expands the variant spectrum of IDUA and provides insights into the splicing system, facilitating its enhanced diagnosis and treatment.
Authors
- Shuxia Ding
- Changshui Chen (ORCID: https://orcid.org/0000-0001-5943-9577)
- Lulu Yan (ORCID: https://orcid.org/0000-0003-0517-2269)
- Haibo Li (ORCID: https://orcid.org/0000-0002-9309-6632)
- Yan He (ORCID: https://orcid.org/0009-0006-6857-351X)
- Bin Fu (ORCID: https://orcid.org/0000-0002-0035-9473)
Institutions
- Ningbo University (CN)
- Ningbo University Affiliated Hospital (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-08-01
- DOI
- https://doi.org/10.1002/mgg3.2507
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33