Genetic analysis. (A) RFXANK mutation. Normal nucleotide sequence of the intron 5/exon 6 boundary of the RFXANK gene and the sequence from a patient with the homozygous 26-bp deletion I5E6-25_I5E6 + 1 (also known as 752delG-25). (B) Haplotype common to 24 unrelated patients with the homozygous 26-bp deletion in the RFXANK gene. An analysis of SNP Array 250 K data showed that patients carrying the I5E6-25_I5E6 + 1 deletion had a common homozygous haplotype around the RFXANK locus.