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Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α‐glucosidase gene
Author(s) -
Kroos Marian A,
Leenen Dik,
Verbiest Jan,
Reuser Arnold JJ,
Hermans Monique MP
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02749.x
Subject(s) - missense mutation , glycogen storage disease , mutation , biology , genetics , complementary dna , glycogen storage disease type ii , gene , microbiology and biotechnology , allele , lysosomal storage disease , compound heterozygosity , glycogen , biochemistry , disease , medicine , enzyme , enzyme replacement therapy
In nine Dutch patients with the infantile form of glycogen storage disease type II (GSDII), who were compound heterozygous for either 525delT or exon18del (1), sequence analysis was performed to search for the mutations in the second lysosomal a‐glucosidase allele. One patient had a novel TG deletion at cDNA position 379 + 380. Surprisingly five of the nine patients had the same two base pair changes: A921 ± T and G925 ±A. The first change is a well‐known polymorphism but the second one is a novel mutation and results in the substitution of Gly309 by Arg. By screening 43 other GSDII patients the same mutation was found in two other cases, one from The Netherlands and one from France. To verify its deleterious effect, the mutation was introduced in the wild type lysosomal α‐glucosidase cDNA and expressed in COS cells.