Figure 1.
Family 1 with nonsense mutation c.851C>G (p.S284X) in RPGR gene.
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).
Figure 2.
Family 2 with nonsense mutation c.2260G>T (p.E754X) in RPGR gene.
A: The pedigree of Family 2. 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 37-year-old proband (II:11) manifested bone spicule like pigmentation in the middle and periphery retina, attenuated arterioles and RPE degeneration. D: Representative sequence chromatograms for a normal individual (left), a female mutation carrier (middle) and a male patient (right).
Figure 3.
Family 3 with a novel deletion c.2233_34delAG (p.E746RfsX22) in ORF15 of RPGR gene.
A: The pedigree of Family 3. 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 8-year-old proband (IV:1) showed bone spicule pigment deposits at the periphery retina. D: Representative sequence chromatograms for a normal individual (left), a female mutation carrier (middle) and a male patient (right).
Figure 4.
Family 4 with a novel deletion c.2236_37delGA (p.E746RfsX22) in ORF15 of RPGR gene.
A: The pedigree of Family 4. 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 42-year-old proband (V:1) showed bone spicules like pigmentation, attenuated blood vessels, waxy pallor of the disc and RPE degeneration. D: Representative sequence chromatograms for a normal individual (left), a female mutation carrier (middle) and a male patient (right).
Figure 5.
Family 5 with a novel deletion c.2403_04delAG (p.E802GfsX31) in ORF15 of RPGR gene.
A: The pedigree of Family 5. 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 40-year-old proband (IV:14) showed characteristic bone spicule pigment deposits, attenuation of retinal arterioles and RPE degeneration. D–E: Fundus photographs of the 12-year-old patient (V:5) demonstrated pigment deposits in the middle and periphery retina, with white dots scattered in the pigment deposits. F: Representative sequence chromatograms for a normal individual (left), a female mutation carrier (middle) and a male patient (right).