Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.

Elisa Fermo, Paola Bianchi, Cristina Vercellati, David C Rees, Anna P Marcello, Wilma Barcellini, Alberto Zanella

UO Ematologia 2, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.

European journal of haematology 2010 Aug

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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.

Citation

Elisa Fermo, Paola Bianchi, Cristina Vercellati, David C Rees, Anna P Marcello, Wilma Barcellini, Alberto Zanella. Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene. European journal of haematology. 2010 Aug;85(2):170-3