Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
We studied 70 unrelated Hunter patients and found a gene alteration in every patient. The molecular heterogeneity was very important. Large gene rearrangements were identified in 14 patients. Forty-three different mutations were identified in the 56 other patients and 31 were not previously described. Deletions and insertions, splice site mutations were associated with a severe phenotype as nonsense mutations except Q531X. Only a few mutations were present in several patients making difficult genotype-phenotype correlations. Mutation identification allows accurate carrier detection improving prenatal diagnosis. The mother was not found to be a carrier in five cases among the 44 sporadic cases. Haplotype analysis demonstrated a higher frequency of mutations in male meiosis.
Froissart
R
R
Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.
Maire
I
I
Millat
G
G
Cudry
S
S
Birot
A M
AM
Bonnet
V
V
Bouton
O
O
Bozon
D
D
D015139:Blotting, Southern; D004247:DNA / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D005190:Family; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D005796:Genes / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010641:Phenotype
D004247:DNA; D007066:Iduronate Sulfatase