A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II

A novel mutation, C118T, in exon 2 of the acid alpha-glucosidase gene has been found in an infant with glycogen storage disease type II. Thi s mutation is predicted to result in protein truncation. The phenotype was that of the severe infantile form of the disorder with lack of mo tor development, but with eye regard, social smile and vocalization. T he parents were heterozygous for C118T and belong to an Islamic commun ity opposed to termination of pregnancy. As the C118T mutation results in the loss of one of two AvaI sites present in an informative PCR pr oduct, reliable premarriage carrier detection became possible and was acceptable to the members of this extended family.