title: Two new mutations of the P5'N-1 gene found in Italian patients with hereditary hemolytic anemia: the molecular basis of the red cell enzyme disorder.
abstract: Inherited pyrimidine 5'-nucleotidase type-1 (P5'N-1) deficiency is the most frequent abnormality of red cell nucleotide metabolism causing non-spherocytic hemolytic anemia. We describe two novel mutations in two Italian patients affected by P5'N-1 deficiency. One mutation is a two base deletion that occurs at the splice site junction between intron 7 and exon 8 (c.396-397del AG); the second is an in-frame deletion of three adjacent bases (c.427-429del CAA), leading to deletion of glutamine 143. The kinetic properties of Q143del variant were not grossly altered, but the variant was very heat unstable even at physiological temperatures.
authors.affiliation: Dipartimento di Biochimica A. Castellani, Università degli Studi di Pavia, via Taramelli 3/b 27100 Pavia, Italy.
authors.forename: Laurent R
authors.initials: LR
authors.lastname: Chiarelli
authors.forename: Elisa
authors.initials: E
authors.lastname: Fermo
authors.forename: Patrizia
authors.initials: P
authors.lastname: Abrusci
authors.forename: Paola
authors.initials: P
authors.lastname: Bianchi
authors.forename: Chiara M
authors.initials: CM
authors.lastname: Dellacasa
authors.forename: Alessandro
authors.initials: A
authors.lastname: Galizzi
authors.forename: Alberto
authors.initials: A
authors.lastname: Zanella
authors.forename: Giovanna
authors.initials: G
authors.lastname: Valentini
mesh_terms: D015720:5'-Nucleotidase / Q000172:deficiency / Q000235:genetics*; D000328:Adult; D000743:Anemia, Hemolytic / Q000235:genetics*; D002869:Chromosome Aberrations; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007558:Italy; D009154:Mutation; D017384:Sequence Deletion
chemical_list: D015720:5'-Nucleotidase