A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.
Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder. A novel gross deletion in the iduronate-2-sulfatase (IDS) gene was found in a 6-year-old boy with Hunter syndrome. The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing loss. The 38.8 kb gross deletion involves exons 1-7, the proximal breakpoints lying in intron 7, at position 1307880 (GenBank NT:019686), and the distal deletion breakpoint was located at position 1346697. The large deletion correlated with the severe phenotype of this Hunter syndrome patient.
Chou
Yen-Yin
YY
Department of Pediatrics, National Cheng-Kung University Hospital, Tainan, Taiwan.
Chao
Sheau-Chiou
SC
Kuo
Pao-Lin
PL
Lin
Shio-Jean
SJ
D002648:Child; D004252:DNA Mutational Analysis; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D009154:Mutation; D017384:Sequence Deletion
D007066:Iduronate Sulfatase