PMC6332952_01
PMC6332952_02
Exon sequencing revealed that a heterozygous point mutation G1244C occurred in the THRB gene of the index patient and his son. This mutation leads to a R320P substitution in the TRbeta protein.
CRIE2018-4081769.001.jpg
PMC6332952_02_CRIE2018-4081769.001.jpg
fig1
THRB gene: the 1244th guanine was changed to cytosine (Figure 1). This point mutation results in the substitution of the 320th wild-type amino acid residue arginine to proline.