title: At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.
abstract: Twenty-five Turkish infants with Tay-Sachs disease (TSD) have been diagnosed in the past 8 years. All are from consanguineous, nonrelated families. The present study deals with the molecular basis of six Turkish TSD patients from five unrelated families in which the parents were first cousins. The five mutations identified in this study were INS-5 G-->A, R393X, R137X, 12-bp 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.
authors.affiliation: Faculty of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: H A
authors.initials: HA
authors.lastname: Ozkara
authors.forename: R
authors.initials: R
authors.lastname: Navon
mesh_terms: D003241:Consanguinity; D054818:Hexosaminidase A; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D013661:Tay-Sachs Disease / Q000453:epidemiology / Q000235:genetics*; D014421:Turkey; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases