Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
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Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. / Storch, Stephan; Wittenstein, Birgit; Islam, Rafiqul; Ullrich, Kurt; Sly, William S; Braulke, Thomas.
In: HUM GENET, Vol. 112, No. 2, 2, 2003, p. 190-194.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
AU - Storch, Stephan
AU - Wittenstein, Birgit
AU - Islam, Rafiqul
AU - Ullrich, Kurt
AU - Sly, William S
AU - Braulke, Thomas
PY - 2003
Y1 - 2003
N2 - Mucopolysaccharidosis VII (MPS VII) is an autosomal recessive disorder caused by the deficiency of beta-glucuronidase leading to the intralysosomal storage of heparan, dermatan, and chondroitin sulfate. Here, we report the identification of two novel missense mutations K350N and R577L in a 37-year-old patient with beta-glucuronidase deficiency and a relatively mild MPS VII phenotype. Expression of the K350N mutation in baby hamster kidney cells has revealed residual enzymatic activity and normal transport of the enzyme to the lysosome. However, expression of the R577L or the double mutant K350N/R577L results in rapid degradation of the enzyme in early biosynthetic compartments and a total loss of enzymatic activity. We attribute the mild phenotype to the residual catalytic activity provided by the K350N mutant. At the time of her death at the age of 37 years, this patient was the longest known survivor with MPS VII.
AB - Mucopolysaccharidosis VII (MPS VII) is an autosomal recessive disorder caused by the deficiency of beta-glucuronidase leading to the intralysosomal storage of heparan, dermatan, and chondroitin sulfate. Here, we report the identification of two novel missense mutations K350N and R577L in a 37-year-old patient with beta-glucuronidase deficiency and a relatively mild MPS VII phenotype. Expression of the K350N mutation in baby hamster kidney cells has revealed residual enzymatic activity and normal transport of the enzyme to the lysosome. However, expression of the R577L or the double mutant K350N/R577L results in rapid degradation of the enzyme in early biosynthetic compartments and a total loss of enzymatic activity. We attribute the mild phenotype to the residual catalytic activity provided by the K350N mutant. At the time of her death at the age of 37 years, this patient was the longest known survivor with MPS VII.
M3 - SCORING: Zeitschriftenaufsatz
VL - 112
SP - 190
EP - 194
JO - HUM GENET
JF - HUM GENET
SN - 0340-6717
IS - 2
M1 - 2
ER -
