Skip to main content
. 2014 Jan 15;9(1):e85752. doi: 10.1371/journal.pone.0085752

Figure 1. Family 1 with nonsense mutation c.851C>G (p.S284X) in RPGR gene.

Figure 1

A: The pedigree of Family 1. Filled symbols represent affected, unfilled unaffected, dotted carrier. Square signify male, circles females. Arrow marks the index patient. M refers to the mutant allele, and + means normal allele. B–C: Fundus photographs of the 57-year-old proband (III:9) manifested typical retinitis pigmentosa changes. D–E: Fundus photographs of the carrier (IV:9) showed pigment deposits, pallor of the disc and RPE degeneration in right eye. F: Representative sequence chromatograms for a normal individual (left), a female mutation carrier (middle) and a male patient (right).