Abstract
Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive disease (fewer than 35 cases reported), characterized by non spherocytic hemolytic anemia, severe and progressive neurological and muscular disorders and increased susceptibility to infections The gene, localized at 12pl3 chromosome, encodes for 247 amino acids, and is expressed in all tissues Seven different mutations have been so far reported (codons 41TGT+TAT 17()ATTGTT [Q4GAG+GAC 122°°+°. IgUCGA+TGA 231GTGAIG. 240Trc-K~Tc) The mutation 104 is the most frequent, having been found in 30/40 alkies from various countries (USA. UK. Greece. Bulgary. Turkey and Australia). We describe the first Italian case of TPI deficiency characterized at the molecular level. The clinical history and results of biochemical characterization have already been reported (Zanella et al. Scand J Haematol. 34:417.1985) The mutant enzyme showed normal K, for GAP and increased 1 for DHAP. decreased thermal stability and abnormal electrophorettc pattern. Since the patient was dead at the age of two vrs for respiratory failure, die study was performed on the parents. The genomic DNA was extracted from pheripheral blood and exon 3 amplified by Porymerase Chain Reaction using intronic primers (Schneider A et al. Am J Hcmatol 50:263.1999) to verify the presence of mutation 104. The PCR products were digested with restriction enzyme Dde I. Both parents carried the mutation at heterozygous level The clinical course of the disease and the enzyme biochemical abnormalities in our patient are similar to those of other cases homozygote for this mutation The finding of mutation 104 also in Italy confirms its worldwide spreading and may be useful for prenatal diagnosis.
| Original language | English |
|---|---|
| Pages (from-to) | 1065 |
| Number of pages | 1 |
| Journal | Experimental Hematology |
| Volume | 24 |
| Issue number | 9 |
| Publication status | Published - 1996 |
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ASJC Scopus subject areas
- Cancer Research
- Cell Biology
- Genetics
- Hematology
- Oncology
- Transplantation
Cite this
An italian case of red cell triosephosphate isomerase deficiency caused by mutation at codon104gag→gac (Gl104→Asp). / Bianchi, P.; Zanella, A.; Baronciani, L.; Bredi, E.; Pelissero, G.; Sirchia, G.; Bertolini, F.
In: Experimental Hematology, Vol. 24, No. 9, 1996, p. 1065.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - An italian case of red cell triosephosphate isomerase deficiency caused by mutation at codon104gag→gac (Gl104→Asp)
AU - Bianchi, P.
AU - Zanella, A.
AU - Baronciani, L.
AU - Bredi, E.
AU - Pelissero, G.
AU - Sirchia, G.
AU - Bertolini, F.
PY - 1996
Y1 - 1996
N2 - Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive disease (fewer than 35 cases reported), characterized by non spherocytic hemolytic anemia, severe and progressive neurological and muscular disorders and increased susceptibility to infections The gene, localized at 12pl3 chromosome, encodes for 247 amino acids, and is expressed in all tissues Seven different mutations have been so far reported (codons 41TGT+TAT 17()ATTGTT [Q4GAG+GAC 122°°+°. IgUCGA+TGA 231GTGAIG. 240Trc-K~Tc) The mutation 104 is the most frequent, having been found in 30/40 alkies from various countries (USA. UK. Greece. Bulgary. Turkey and Australia). We describe the first Italian case of TPI deficiency characterized at the molecular level. The clinical history and results of biochemical characterization have already been reported (Zanella et al. Scand J Haematol. 34:417.1985) The mutant enzyme showed normal K, for GAP and increased 1 for DHAP. decreased thermal stability and abnormal electrophorettc pattern. Since the patient was dead at the age of two vrs for respiratory failure, die study was performed on the parents. The genomic DNA was extracted from pheripheral blood and exon 3 amplified by Porymerase Chain Reaction using intronic primers (Schneider A et al. Am J Hcmatol 50:263.1999) to verify the presence of mutation 104. The PCR products were digested with restriction enzyme Dde I. Both parents carried the mutation at heterozygous level The clinical course of the disease and the enzyme biochemical abnormalities in our patient are similar to those of other cases homozygote for this mutation The finding of mutation 104 also in Italy confirms its worldwide spreading and may be useful for prenatal diagnosis.
AB - Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive disease (fewer than 35 cases reported), characterized by non spherocytic hemolytic anemia, severe and progressive neurological and muscular disorders and increased susceptibility to infections The gene, localized at 12pl3 chromosome, encodes for 247 amino acids, and is expressed in all tissues Seven different mutations have been so far reported (codons 41TGT+TAT 17()ATTGTT [Q4GAG+GAC 122°°+°. IgUCGA+TGA 231GTGAIG. 240Trc-K~Tc) The mutation 104 is the most frequent, having been found in 30/40 alkies from various countries (USA. UK. Greece. Bulgary. Turkey and Australia). We describe the first Italian case of TPI deficiency characterized at the molecular level. The clinical history and results of biochemical characterization have already been reported (Zanella et al. Scand J Haematol. 34:417.1985) The mutant enzyme showed normal K, for GAP and increased 1 for DHAP. decreased thermal stability and abnormal electrophorettc pattern. Since the patient was dead at the age of two vrs for respiratory failure, die study was performed on the parents. The genomic DNA was extracted from pheripheral blood and exon 3 amplified by Porymerase Chain Reaction using intronic primers (Schneider A et al. Am J Hcmatol 50:263.1999) to verify the presence of mutation 104. The PCR products were digested with restriction enzyme Dde I. Both parents carried the mutation at heterozygous level The clinical course of the disease and the enzyme biochemical abnormalities in our patient are similar to those of other cases homozygote for this mutation The finding of mutation 104 also in Italy confirms its worldwide spreading and may be useful for prenatal diagnosis.
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M3 - Article
AN - SCOPUS:33748589234
VL - 24
SP - 1065
JO - Experimental Hematology
JF - Experimental Hematology
SN - 0301-472X
IS - 9
ER -