Fig. 1

Evidence that the deletion of ATP6V1B1 underlies dRTA in this family (a) ATP6V0A4 was excluded by heterozygosity of SNPs in the patient in exons 4, 17 and 18. b Failure of PCR to amplify exons 3–4 and 13–14 of ATP6V1B1 in the patient (P) suggested a large deletion compared to positive control (+). c Successful PCR amplification in the patient for exon 1 of VAX2 () and exon 1 of ANKRD53 (), but not exon 2 of VAX2 () and exon 21 of ATP6V1B1 () define regions on either side of ATP6V1B1 for the deletion breakpoints on chromosome 2. L = 100bp ladder