Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.
A group of 46 European patients with mucopolysaccharidosis type I (MPS I) was screened for mutations of the alpha-L-iduronidase gene. The 2 common nonsense mutations, W402X and Q70X, were identified in, respectively, 37% and 35% of mutant alleles. Considerable differences were seen in the frequency of these 2 mutations in patients from North Europe (Norway and Finland) and other European countries (mainly The Netherlands and Germany). In Scandinavia, W402X and Q70X account for 17% and 62% of the MPS I alleles, respectively, while in other European countries W402X is about 2.5 times more frequent (48%) than Q70X (19%). Eight novel mutations are described including 4 missense mutations, 1 nonsense mutation, 1 insertion of 2 base pairs, and 2 deletions of 1 and 12 base pairs.
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
S
S
Bunge
W J
WJ
Kleijer
C
C
Steglich
M
M
Beck
C
C
Zuther
C P
CP
Morris
E
E
Schwinger
J J
JJ
Hopwood
H S
HS
Scott
A
A
Gal
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers; D004251:DNA Transposable Elements; D005060:Europe; D005091:Exons; D005387:Finland; D005858:Germany; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D008969:Molecular Sequence Data; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D009426:Netherlands; D009664:Norway; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012537:Scandinavian and Nordic Countries; D017384:Sequence Deletion; D012867:Skin / Q000201:enzymology / Q000473:pathology
D017931:DNA Primers; D004251:DNA Transposable Elements; D007068:Iduronidase