Figure 2: Sequence analyses of the patients with the c.58A > C and c.1499G > A mutation.

(A,B) Genomic DNA sequence chromatograms. Positions of the c.58A > C (A) and c.1499G > A (B) mutations are indicated. (C) Schematic representation of the structure of Nr1d1. c.58A > C and c.1499G > A mutations were detected in the Modulating and Ligand-binding domain, respectively. GJA1, Gap junction alpha-1 protein.