Allelic spectrum of formiminotransferase ‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

ConclusionWe observed additional FTCD alleles leading to urinary FIGLU elevations, and thus, providing molecular evidence of FTCD deficiency in cases identified by newborn screening or clinical biochemical genetic laboratory testing. Our study of 20 individuals with formiminoglutamic aciduria identified new variants in the FTCD gene that contributed to this genetic condition. This study expands the number of FTCD variants that leads to increased excretion of formiminoglutamic aciduria.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fmgg3.333

Source: Molecular Genetics & Genomic Medicine - July 1, 2017 Category: Genetics & Stem Cells Authors: Ramanath Majumdar, Andrew Yori, Peggy W. Rush, Kimiyo Raymond, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Piero Rinaldo, Gerald L. Feldman, Devin Oglesbee Tags: Clinical Report Source Type: research

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