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Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

Y B Sohn1, C-S Ki, C-H Kim

  • 1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

Clinical Genetics
|February 5, 2011
PubMed

Insights

This study analyzes 31 mutations in 49 Korean patients with Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome. Researchers identified novel mutations and found that while recombination mutations often cause severe disease, splicing mutations can lead to varied phenotypes.

Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked lysosomal storage disorder.
  • It results from a deficiency in the enzyme iduronate-2-sulfatase (IDS).
  • Previous studies have analyzed MPS II mutations, but further genetic characterization is needed.

Purpose of the Study:

  • To identify and characterize mutations in the IDS gene in a cohort of Korean patients with MPS II.
  • To analyze genotype-phenotype correlations in these patients.
  • To discover novel mutations associated with MPS II.

Main Methods:

  • Mutation analysis of the IDS gene in 49 Korean patients (45 families) with MPS II.
  • Categorization of mutations including missense, deletions, splicing, nonsense, insertions, deletion/insertion, and IDS-IDS2 recombination.
  • Correlation of identified genotypes with clinical phenotypes.

Main Results:

  • 31 distinct mutations were identified, with 11 being novel.
  • IDS-IDS2 recombination mutations were the most frequent and consistently associated with severe MPS II.
  • The G374G splicing mutation was predominantly linked to an attenuated phenotype, with exceptions.
  • Most patients presented unique mutations, with a few recurrent mutations observed.

Conclusions:

  • The genetic landscape of MPS II in Korean patients is diverse, featuring numerous unique mutations.
  • Genotype-phenotype correlations are complex and require careful interpretation, especially for splicing mutations.
  • This study expands the known spectrum of IDS mutations and their clinical implications in MPS II.

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