GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient

A point mutation within exon 5 of beta-hexosaminidase alpha chain gene was identified earlier in a Puerto Rican patient with GM2-gangliosidosis B1 variant (the DN-allele) [K. Ohno and K. Suzuki: J. Neurochem. 50:316-318, 1988]. Oligonucleotide probes designed to detect either the normal or the DN-allele showed that four additional patients carried the same mutation. These patients were of Italian, French, Spanish, and English/Italian/Hungarian origin. Three of them, as well as our original patient, were compound heterozygotes with positive signals for both the mutant and normal probes, while the Spanish patient was positive only for the DN-allele. A patient from Czechoslovakia was negative for the DN-allele. Thus, the specific mutation originally found in the Puerto Rican patient has a surprisingly wide geographic and ethnic distribution. This mutation can account for the B1 variant phenotype in five of the six B1 variant patients so far examined.