A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

ABSTRACT: Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the development of cataracts in the first weeks of life. It has also been suggested that carriers of the deficiency are predisposed to presenile cataracts developing at age 20-50 years. Newborn screening data suggest that the gene frequency is very low worldwide but is higher among the Roma in Europe. Since the cloning of the galactokinase gene (GK1) in 1995, only two disease-causing mutations, both confined to single families, have been identified. Here we present the results of a study of six affected Romani families from Bulgaria, where index patients with galactokinase deficiency have been detected by the mass screening. Genetic linkage mapping placed the disease l

SUBMITTER: Kalaydjieva L 

PROVIDER: S-EPMC1288282 | biostudies-literature | 1999 Nov

REPOSITORIES: biostudies-literature