Molecular genetic study of Pompe disease in Chinese patients in Taiwan

Pompe disease is caused by mutations in the acid alpha-glucosidase (GAA) ge ne. Multiple kinds of mutations in the GAA gene have been reported worldwid e. In order to elucidate the molecular basis of the disease in Taiwanese pa tients of Chinese origin, we have recruited 11 unrelated families who had a t least one member with Pompe disease for study. We used 16 pairs of oligon ucleotide primers to amplify all the coding regions from exon 2 to 20 in th e family members. The coding regions were sequenced on both the sense and a ntisense strands. We identified 7 different mutations in 17 alleles but fai led to identify the defects in the other 5 alleles. The most common defect was D645E (Asp645Glu), accounting for 36% (8/22 alleles) of mutations, foll owed by G615R (Gly615Arg) (3 alleles); 1411del4 (Glu471-shift) (2 alleles); and one allele each of R600H (Arg600His); Delta N675 (Delta Asn675); 2380d elC (Arg794-shift) and 2815delGT (Val939-shift). The molecular defects of P ompe disease are highly heterogeneous in Chinese. Characterization of the m olecular defects of the disease is useful for a genotype-phenotype correlat ion and for genetic counseling and prenatal diagnosis. Hum Mutat 13:380-384 , 1999. (C) 1999 Wiley Liss, Inc.