title: Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
abstract: The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation.
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
authors.forename: Alireza
authors.initials: A
authors.lastname: Haghighi
authors.forename: Jamileh
authors.initials: J
authors.lastname: Rezazadeh
authors.forename: Azam Ahmadi
authors.initials: AA
authors.lastname: Shadmehri
authors.forename: Amirreza
authors.initials: A
authors.lastname: Haghighi
authors.forename: Ruth
authors.initials: R
authors.lastname: Kornreich
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D000328:Adult; D000483:Alleles; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D013661:Tay-Sachs Disease / Q000235:genetics*; D054820:beta-Hexosaminidase alpha Chain / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; C518253:HEXA protein, human; D054820:beta-Hexosaminidase alpha Chain