6533b856fe1ef96bd12b331e
RESEARCH PRODUCT
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
Niklas DahlEberhard SchwingerAndreas GalBernhard ZabelMichael BeckJohn J. HopwoodCordula Steglichsubject
MaleX ChromosomeLocus (genetics)Iduronate SulfataseBiologyGene mappingmedicineHumansMucopolysaccharidosis type IIChildGenetics (clinical)X chromosomeMucopolysaccharidosis IIGeneticsIduronate-2-sulfataseChromosome MappingHunter syndromeDNAmedicine.diseaseXq28PedigreeBlotting SouthernFemaleRestriction fragment length polymorphismChromosome DeletionPolymorphism Restriction Fragment Lengthdescription
Hunter syndrome is an X-linked mucopoly-saccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). A cDNA clone containing the entire coding region of the human IDS gene, mapped in Xq28, has been used as molecular probe to study a patient with Hunter syndrome. A submicroscopic deletion has been detected that spans the IDS gene as well as DXS466 and DXS304, 2 loci mapped probably not more than 900 kb from the IDS locus. A detailed clinical description of the patient is provided and his phenotype is compared to that of other patients with IDS deletion described recently. By following the segregation of a restriction fragment length polymorphism at the IDS locus in the patient's family, our data suggest that the deletion occurred in the germ cells of the patient's grandfather. © 1992 Wiley-Liss, Inc.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1992-09-01 | American journal of medical genetics |