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1: FEBS Lett. 1990 Jan 1;259(2):353-6.Click here to read Links

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

Koide T, Ishiura M, Iwai K, Inoue M, Kaneda Y, Okada Y, Uchida T.

Department of Cell Biology, National Institute for Basic Biology, Aichi, Japan.

We analyzed a male patient with Fabry's disease who had no activity of the lysosomal hydrolase alpha-galactosidase A (alpha-GalA) and female members of his family. We cloned a cDNA that encoded the mutant alpha-GalA, determined its nucleotide sequence, and found two nucleotide differences between the mutant and the wild-type cDNAs. Although one difference was silent, the other difference, a C-to-T transition at nucleotide number 118, resulted in an amino acid substitution of Pro-40 by Ser. A transient expression assay demonstrated that this missense mutation was the cause of the deficiency of alpha-GalA activity in the patient. In vitro mutagenesis experiments demonstrated that Pro-40 is critical for the appearance of alpha-GalA activity.

PMID: 2152885 [PubMed - indexed for MEDLINE]