PMC8319565_01
Sequencing analysis shows a heterozygous 818 C > T transition in exon 2 of AVPR2 in the CNDI patient (Arrow, middle). A heterozygous 818 C > T transition was noted at the same position of AVPR2 in the patient's mother (Arrow, lower).
fped-09-707452-g0001.jpg
PMC8319565_01_fped-09-707452-g0001.jpg
F1
Notably, the patient's mother harbored a heterozygous mutation at the same location of AVPR2, whereas his father showed no mutation at the same location of AVPR2 (Figure 1).