Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

摘要

Family 1 with a novel nonsense mutation c.1541C > G(p. S514X) in exon 13 of the RPGR gene. The pedigree of family 1. Filled squares refer to affected patients, unfilled squares or circles represent unaffected individuals, and dotted circles represent carriers. Squares represent males, and circles represent females. Arrow refers to the proband. M marks the mutant allele, and + marks the normal allele. , The 37-year-old proband’s (III:5) fundus photographs showing clinically typical characteristics such as bone-spicule pigment deposits, optic disc pallor, the attenuation of blood vessels and RPE degeneration. The left graph represents a normal sequence chromatogram and the right graph represents a male patient’s sequence chromatogram