Mutation analysis of Jewish hunter patients in Israel
- 1 January 1994
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 4 (4) , 263-270
- https://doi.org/10.1002/humu.1380040406
Abstract
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, 717del4, and 244del3. In addition, the silent mutation (562 C→T) was observed in one patient.Keywords
This publication has 18 references indexed in Scilit:
- Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: Identification of an apparent case of germinal mosaicismAmerican Journal of Medical Genetics, 1993
- Recurrent mutations in the factor IX gene: founder effect or repeat de novo eventsHuman Genetics, 1993
- Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase geneHuman Mutation, 1993
- A suggested nomenclature for designating mutationsHuman Mutation, 1993
- Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) geneHuman Molecular Genetics, 1993
- Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)Human Molecular Genetics, 1992
- Detection of point mutations and a gross deletion in six Hunter Syndrome patientsGenomics, 1992
- Human liver iduronate-2-sulphatase. Purification, characterization and catalytic propertiesBiochemical Journal, 1990
- The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictionsHuman Genetics, 1990
- The Defect in the Hunter Syndrome: Deficiency of Sulfoiduronate SulfataseProceedings of the National Academy of Sciences, 1973