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Point mutation in the SOX9 5′UTR creates a start codon. (A) The heterozygous G>A transition at position –185 in the SOX9 5′UTR in the patient results in an ATG codon that generates an upstream open reading frame (ORF) of 62 codons in a + 1 frame relative to the wild‐type ORF, terminating one nucleotide beyond the normal ATG start codon. (B) The sequence flanking the mutant upstream AUG has a better fit to the Kozak consensus sequence as the sequence around the wild‐type AUG.
