title: A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT].
abstract: A 33-year-old adult male of Greek ethnicity, with hematological indices suggesting β(0)-thalassemia (β(0)-thal) trait, was investigated for HBB gene mutations in the course of preparation for preimplantation genetic diagnosis (PGD). Application of a routine diagnostic protocol, consisting of sequence analysis of the HBB gene, coupled to multiplex ligation-dependent probe amplification (MLPA), identified a single nucleotide deletion (-T) at codon 72 [HBB: c.216delT], leading to a novel pathogenic frameshift and protein-truncating β(0)-thal mutation (p.Phe72LeufsX18).
authors.affiliation: Department of Molecular Genetics, InterGenetics, Diagnostic Genetics Centre, Athens, Greece. genetic@ath.forthnet.gr
authors.forename: Christopher
authors.initials: C
authors.lastname: Konialis
authors.forename: Birgitta
authors.initials: B
authors.lastname: Hagnefelt
authors.forename: Sophia
authors.initials: S
authors.lastname: Sevastidou
authors.forename: Katerina
authors.initials: K
authors.lastname: Pispili
authors.forename: Constantinos
authors.initials: C
authors.lastname: Pangalos
mesh_terms: D000328:Adult; D001483:Base Sequence; D003062:Codon; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006115:Greece; D006801:Humans; D008297:Male; D010375:Pedigree; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins