Mutation analysis of Jewish Hunter patients in Israel.
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.
Ben Simon-Schiff
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Department of Human Genetics, Hadassah Hebrew University Hospital, Ein Kerem, Jerusalem, Israel.
Bach
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Hopwood
J J
JJ
Abeliovich
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D
D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006580:Genetic Carrier Screening; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007557:Israel; D007585:Jews; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000208:ethnology / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational