Mutation analysis of Jewish Hunter patients in Israel

Hum Mutat. 1994;4(4):263-70. doi: 10.1002/humu.1380040406.


We have performed molecular and mutation analyses on 14 unrelated Israeli Hunter families and have identified the IDS mutation in 8 of them. Three unrelated Ashkenazi patients had the same previously reported mutation (1246 C-->T). Based on the haplotypes of the mutation-bearing chromosomes, we concluded that this is a recurrent mutation. In two patients, we identified a deletion spanning exons V-VII. Three novel mutations were observed in different patients: L410P, 717de14, and 244de13. In addition, the silent mutation (562 C-->T) was observed in one patient.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA Mutational Analysis*
  • Genetic Carrier Screening
  • Genotype
  • Haplotypes
  • Humans
  • Israel
  • Jews
  • Molecular Sequence Data
  • Mucopolysaccharidosis II / ethnology
  • Mucopolysaccharidosis II / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational