Fig. 1

Mutations detected in the ATP6V0A4 gene. a Left; A heterozygous single-base substitution of G to A in intron 11 (C.1029 + 5A > G) was detected in the paternal allele. Right; A heterozygous single-base substitution of G to A in exon 22 (c.2420 G > A) was detected in the maternal allele. b Normal sequence of exon 11 and intron 11 in the ATP6V0A4 gene. The original splice donor site was interrupted by the mutation (c.1029 + 5G > A) and the sequence of “GT” 104 bp later was used preferentially as an alternative splice donor site. The insertion following exon 11 is underlined and results in a stop codon within the insertion