Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
Hunter syndrome is an X-linked mucopolysaccharidosis 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.
Beck
M
M
Kinderklinik der Universität, Mainz, Germany.
Steglich
C
C
Zabel
B
B
Dahl
N
N
Schwinger
E
E
Hopwood
J J
JJ
Gal
A
A
D015139:Blotting, Southern; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA; D005260:Female; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
D004247:DNA; D007066:Iduronate Sulfatase