At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population

Twenty-five Turkish infants with Tay-Sachs disease (TSD) have been diagnose d in the past 8 years. All are from consanguineous, nonrelated families. Th e present study deals with the molecular basis of six Turkish TSD patients from five unrelated families in which the parents were first cousins. The f ive mutations identified in this study were INS-5 G-->A, R393X, R137X, 12-b p deletion in exon 10, and G454D. The first three were reported in earlier studies, two in Turkish TSD infants and one in a French TSD infant. (C) 199 8 Academic Press.