Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria

p.Lys228_Met259del32 (in-frame deletion of exon7). The deletion was detected in an Italian 4-year-old boy presenting with nephrocalcinosis, nephrolithiasis and oxalate level suggestive of Primary Hyperoxaluria type I referred from the University of Padova. As the standard AGXT gene test detected only the common p.Gly170Arg mutation on the paternal allele, a second level analysis was undertaken through PCR of adjacent exon pairs. An exon 7 deletion was highlighted by the monoallelic amplification of an informative intronic SNP. The deletion was shown to be inherited from the mother and was independently confirmed in the Cologne lab. using MLPA.