Fig. 3

Pedigree of family CS06, clinical evaluations of the proband, and analysis of mutation c.7274A > G (p.D2425G) in LPR2. a Pedigree of family CS06. *Individuals on whom WES was performed, ^§Individuals on whom sanger sequencing was performed. Abbreviation: M2, mutation c.7274A > G. b Ocular positions and movements for patient IV:3. White arrow, esotropia phenotype of right eye. c Sanger sequencing showing heterozygous c.7274A > G mutation in IV:3 (patient) and III:5 (unaffected) respectively. Reference sequences are given at the bottom. Abbreviation: Het., heterozygous; Ref., reference. d Conservation analysis of residue p.D2425 (boxed) of LRP2 across eight species