Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I
Lulu Yan,
Shuxia Ding,
Yan He
et al.
Abstract:BackgroundMucopolysaccharidosis type I (MPS‐I) is a rare autosomal recessive genetic lysosomal storage disorder that is caused by pathogenic variants of the α‐L‐iduronidase (IDUA) gene. This study aimed to identify the genetic causes of MPS‐I in a Chinese patient and construct a minigene of IDUA to analyze its variants upon splicing.MethodsWhole‐exome sequencing (WES) and Sanger sequencing were used to confirm the potential causative variants. Single‐nucleotide polymorphism (SNP) array was subsequently perform… Show more
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