Clinical and genetic analysis of two children suspected for argininosuccinic aciduria / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To analyze the clinical and genetic features of two children suspected for arginylsuccinuria aciduria.@*METHODS@#The patients were subjected to high-throughput sequencing using a gene panel.@*RESULTS@#Both patients had high citrulline (87.37-156.10 μmol/L) measured by mass spectrometry/mass spectrometry (MS/MS) upon neonatal screening but had no symptoms. Two compound heterozygous variants of the ASL gene were detected in patient 1 (exon 6: c.467C>T inherited from her father and exon 7: c.556C>T inherited from her mother), among which c.556C>T is novel. Patient 2 had mental retardation and two full siblings who had died of hyperammonemia. Two compound heterozygosity variants of the ASL gene were detected (exon 3: c.281G>T inherited from his father and intron: c.208-15T>A inherited from his mother). Both were novel mutations.@*CONCLUSION@#Variants of the ASL gene probably underlie the argininosuccinic aciduria in the two patients. Above findings have enriched the spectrum of ASL mutations.