Figure 7.

Comparison of KidVol/BSA in newborns with various combinations of hypomorphic RET^1476(A) and PAX2^AAA alleles. All 136 newborns in our cohort were genotyped for both the RET(1476G/A) SNP and the hypomorphic PAX2^AAA haplotype previously described by Quinlan et al.¹⁵ KidVol/BSA among newborns bearing one or more hypomorphic RET^1476(A) alleles (n = 46) was 90.3% of that for infants with the major RET^1476(G)/PAX2^GGG alleles (n = 41; P = 0.01). Similarly, KidVol/BSA among newborns with one or more hypomorphic PAX2^AAA alleles (n = 14) was 89.5% of RET^1476(G)/PAX2^GGG newborns (P = 0.04). In the subset of newborns bearing both hypomorphic RET^1476(A) and PAX2^AAA alleles (n = 17), KidVol/BSA was only 77% of that in wild-type RET^1476(G)/PAX2^GGG infants (P = 0.00067).