Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population.
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.
Sinigerska
Ivanka
I
Laboratory of Molecular Pathology, Medical University, Sofia, Bulgaria.
Chandler
David
D
Vaghjiani
Vijesh
V
Hassanova
Irfet
I
Gooding
Rebecca
R
Morrone
Amelia
A
Kremensky
Ivo
I
Kalaydjieva
Luba
L
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*
C061901:GLB1 protein, human; D001616:beta-Galactosidase