Table 1.

Genetic mutations identified via GeneDx testing.

Mutation	Mutation effect	Mutation prediction
c.57_58delTG	Two-base deletion causing a frameshift and changing the tyrosine 19 codon to a premature stop codon	Loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay
c.526dupC	Cytosine base duplication causing a frameshift starting with codon arginine 176, changing this amino acid to a proline residue and creates a premature stop codon at position 4 of the new reading frame	Loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay