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Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene
Author(s) -
Fermo Elisa,
Bianchi Paola,
Vercellati Cristina,
Rees David C.,
Marcello Anna P.,
Barcellini Wilma,
Zanella Alberto
Publication year - 2010
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2010.01451.x
Subject(s) - triosephosphate isomerase , compound heterozygosity , gene , mutation , loss of heterozygosity , biology , genetics , gene mutation , sequence (biology) , isomerase , microbiology and biotechnology , medicine , allele
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.