title: Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population.
abstract: The Gypsies are a trans-national founder population of Asian descent, whose genetic heritage is still incompletely characterized. Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. The R59H carrier rate is approximately 2% in the general Gypsy population and approximately 10% in the Rudari sub-isolate. Haplotype analysis suggests that the Gypsy diaspora may have contributed to the spread of this mutation to South America.
authors.affiliation: Laboratory of Molecular Pathology, Medical University, Sofia, Bulgaria.
authors.forename: Ivanka
authors.initials: I
authors.lastname: Sinigerska
authors.forename: David
authors.initials: D
authors.lastname: Chandler
authors.forename: Vijesh
authors.initials: V
authors.lastname: Vaghjiani
authors.forename: Irfet
authors.initials: I
authors.lastname: Hassanova
authors.forename: Rebecca
authors.initials: R
authors.lastname: Gooding
authors.forename: Amelia
authors.initials: A
authors.lastname: Morrone
authors.forename: Ivo
authors.initials: I
authors.lastname: Kremensky
authors.forename: Luba
authors.initials: L
authors.lastname: Kalaydjieva
mesh_terms: D018703:Founder Effect; D016537:Gangliosidosis, GM1 / Q000235:genetics*; D006801:Humans; D007223:Infant; D017354:Point Mutation; D006178:Romani People / Q000235:genetics*; D001616:beta-Galactosidase / Q000235:genetics*
chemical_list: C061901:GLB1 protein, human; D001616:beta-Galactosidase