Figure 1. Patient 21,000 and his mother are heterozygous for a novel rare protein variant of NR2E1. A: The patient 21,000 chromatogram shows the base pair change C–>G and the normal allele. B: The pedigree of the family shows the affected boy 21,000. C: NR2E1 amino-acid change from Arg to Gly (arrow) is located in the ligand binding domain. DBD, DNA Binding Domain; LBD, Ligand Binding Domain; numbers represent amino-acids.