Figure 1. Whole-exome sequencing analysis of the infant. (A) Reference sequence: This segment illustrates the reference sequence representing the normal genomic configuration. (B) Sequencing results: Results of the sequencing analysis. The identified homozygous variation, NM_001005741.2: c.1448T>C (p.Leu483Pro), is emphasized, indicating the substitution of the 1448th base in the coding region (marked by the arrow). This alteration leads to the change from T to C, consequently modifying the 483th amino acid from leucine to proline.