title: GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
abstract: The GM2 gangliosidose, Tay-Sachs and Sandhoff diseases, are a class of lysosomal storage diseases in which relentless neurodegeneration results in devastating neurological disability and premature death. Primary prevention is the most effective intervention since no effective therapy is currently available. An extremely successful model for the prevention of GM2 gangliosidosis in the Ashkenazi Jewish community is largely attributable to the very limited number of founder mutations in that population. Consistent with our previous observation of allelic heterogeneity in consanguineous populations, we show here that these diseases are largely caused by private mutations which present a major obstacle in replicating the Ashkenazi success story. Alternative solutions are proposed which can also be implemented for other autosomal recessive diseases in our population.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Namik
authors.initials: N
authors.lastname: Kaya
authors.forename: Mohammad
authors.initials: M
authors.lastname: Al-Owain
authors.forename: Nada
authors.initials: N
authors.lastname: Abudheim
authors.forename: Jawaher
authors.initials: J
authors.lastname: Al-Zahrani
authors.forename: Dilek
authors.initials: D
authors.lastname: Colak
authors.forename: Moeen
authors.initials: M
authors.lastname: Al-Sayed
authors.forename: Aysel
authors.initials: A
authors.lastname: Milanlioglu
authors.forename: Pinar T
authors.initials: PT
authors.lastname: Ozand
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D004252:DNA Mutational Analysis; D020143:Gangliosidoses, GM2 / Q000235:genetics* / Q000517:prevention & control; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012529:Saudi Arabia; D054820:beta-Hexosaminidase alpha Chain / Q000235:genetics*; D054821:beta-Hexosaminidase beta Chain / Q000235:genetics*
chemical_list: C518253:HEXA protein, human; C513386:HEXB protein, human; D054820:beta-Hexosaminidase alpha Chain; D054821:beta-Hexosaminidase beta Chain