Molecular basis of fabry disease: Mutations and polymorphisms in the human α‐galactosidase A gene

摘要: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the α-galactosidase A gene at Xq22.1. Studies unrelated families have identified a variety lesions indicating molecular genetic heterogeneity underlying disease. Forty-nine different been described including five partial deletions, one duplication, nine small deletions and insertions, three splice junction consensus site alterations, 31 coding region single base substitutions. Most resulted classical disease phenotype; however, missense were detected atypical hemizygotes who asymptomatic or had symptoms confined to heart, N215S, which was males. pedigree with exception R227Q, R227X, R342Q, R342X, each found several families. Five 14 CpG dinucleotides sites point CpGs codons 227 342, mutated both orientations. The identification mutation given family permits precise prenatal diagnosis heterozygote detection other members this recessive additional will provide information on nature frequency causing as well potential insights into structure/ function relationships lysosomal hydrolase. © 1994 Wiley-Liss, Inc.