title: Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
abstract: The complementary and genomic DNA segments of the alpha-L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler/Scheie (MPS IH/S) patients were amplified by polymerase chain reaction (PCR) and DNA sequencing was done to study their molecular lesions. Patient W3 has heterozygous mutations; the maternal allele has M1I (G to A transition in the initiation codon ATG) and the paternal allele has Y343X (C to G transversion in exon 8 leading to in frame deletion of codons 325-343 from the mRNA owing to false splicing). Patient W2 is homozygous for mutation T364M (C to T transition in codon 364). The mutation was paternally inherited. A de novo deletion or gene conversion event may have resulted in apparent homozygosity for T364M. Expression of Y343X and T364M showed trace amounts of alpha-L-iduronidase activity compared to that of normal cDNA upon transfection into COS-7 cells.
authors.affiliation: Department of Biology, National Taiwan Normal University, Taipei, ROC.
authors.forename: G J
authors.initials: GJ
authors.lastname: Lee-Chen
authors.forename: T R
authors.initials: TR
authors.lastname: Wang
mesh_terms: D000818:Animals; D044466:Asian People; D019556:COS Cells; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D008297:Male; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D013577:Syndrome
chemical_list: D007068:Iduronidase