title: Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.
abstract: We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. The sequence of complete TPI gene showed the presence of two previously undescribed mutations: c.722 T>C (Phe240Ser) and c.28 insG; each of the two unrelated patients showed the new mutation in compound heterozygosity with the most common variant Glu104Asp. The association of Glu104Asp with c.28 insG resulted in a very severe clinical pattern.
authors.affiliation: UO Ematologia 2, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Fermo
authors.forename: Paola
authors.initials: P
authors.lastname: Bianchi
authors.forename: Cristina
authors.initials: C
authors.lastname: Vercellati
authors.forename: David C
authors.initials: DC
authors.lastname: Rees
authors.forename: Anna P
authors.initials: AP
authors.lastname: Marcello
authors.forename: Wilma
authors.initials: W
authors.lastname: Barcellini
authors.forename: Alberto
authors.initials: A
authors.lastname: Zanella
mesh_terms: D000743:Anemia, Hemolytic / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D009468:Neuromuscular Diseases / Q000235:genetics; D010641:Phenotype; D014305:Triose-Phosphate Isomerase / Q000172:deficiency* / Q000235:genetics*
chemical_list: D014305:Triose-Phosphate Isomerase