Figure 1.

(A)—the genealogy of the family presenting two affected brothers in the third generation and affected uncle in the second generation, as well as female carriers in the second and first generations. (B)—schematic representation of the primers designed to amplificate specific cDNA fragment of the SLC9A6 gene. (C)—Sanger sequencing of DNA samples confirms the SLC9A6 splice site variant c.899 + 1G > A in proband 1, proband 2, and their mother. (D)—schematic representation of cDNA Sanger sequencing results showing exon 6 skipping. (E)—SLC9A6 protein linear representation with predicted impact of exon 6 skipping on protein leading to frameshift and premature stop codon.