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.
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.
Chiarelli
Laurent R
LR
Dipartimento di Biochimica A. Castellani, Università degli Studi di Pavia, via Taramelli 3/b 27100 Pavia, Italy.
Fermo
Elisa
E
Abrusci
Patrizia
P
Bianchi
Paola
P
Dellacasa
Chiara M
CM
Galizzi
Alessandro
A
Zanella
Alberto
A
Valentini
Giovanna
G
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
D015720:5'-Nucleotidase