Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S

Y. N. Teng, T. R. Wang, W. L. Hwu, S. P. Lin, G. J. Lee-Chen

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DNA screening for mutations in the α-L-iduronidase (IDUA) gene was performed in a Chinese mucopolysaccharidosis type IH/S patient. The patient had two different mutations: the maternal allele has L346R (t-g transversion in codon 346) and the paternal allele has 388-3c-g (c-g transversion at position -3 of the 3' splice site of intron 2). In transfected COS-7 cells, L346R showed no appreciable IDUA activity (0.4% of normal activity), although it did not cause an apparent reduction in IDUA mRNA or protein level. The 388-3c-g mutation profoundly affects normal splicing leading to a very unstable mRNA. Expression of the IDUA cDNA containing the mutated acceptor splice site showed trace amounts of enzyme activity (1.6% of normal activity). The results provide further support for the importance of cytosine at the -3 position in RNA processing.

Original languageEnglish
Pages (from-to)131-136
Number of pages6
JournalClinical Genetics
Issue number2
Publication statusPublished - 2000 Mar 8



  • α-L-iduronidase
  • Acceptor splice site
  • MPS IH/S
  • Novel mutations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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