Fig. 1

DNA sequencing for the mutations. The patient carried two heterogeneous mutations in SLC2A9 gene. a. CNV analysis suggested a deletion of exon 4 and 5 in the SLC2A9 gene. b. A length of 146 bp heterozygous deletion (chr4:9,982,216–9,982,361) in exon 5 of the SLC2A9 gene was verified by qPCR-SYBR Green I method. c.A heterozygous nonsense mutation (c.944G > A, pTrp315Stop) in exon 7