title: Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
abstract: Tay-Sachs disease (TSD), a pan-ethnic, autosomal recessive, neurodegenerative, lysosomal disease, results from deficient β-hexosaminidase A activity due to β-hexosaminidase α-subunit (HEXA) mutations. Prenatal/premarital carrier screening programs in the Ashkenazi Jewish community have markedly reduced disease occurrence. We report the first Jordanian Arab TSD patient diagnosed by deficient β-hexosaminidase A activity. HEXA mutation analysis revealed homozygosity for a nonsense mutation, c.78G>A (p.W26X). Previously reported in Arab patients, this mutation is a candidate for TSD screening in Arab populations.
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
authors.forename: Alireza
authors.initials: A
authors.lastname: Haghighi
authors.forename: Amira
authors.initials: A
authors.lastname: Masri
authors.forename: Ruth
authors.initials: R
authors.lastname: Kornreich
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D007597:Jordan; D008297:Male; D013661:Tay-Sachs Disease / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D054820:beta-Hexosaminidase alpha Chain / Q000097:blood / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C518253:HEXA protein, human; D054820:beta-Hexosaminidase alpha Chain