WES of the proband with a novel RPGR mutation

Background: Cone-rod dystrophy (CORD) is a group of inherited
retinal dystrophies, characterized by decreased visual acuity, color
vision defects, photophobia, and decreased sensitivity in the central
visual field. Our study has identified a novel pathogenic variant
associated with X-linked cone-rod dystrophy (XLCORD) in
a Chinese family. Methods: All six family members, including the
proband, affected siblings, cousins and female carriers, have underwent
thorough ophthalmic examinations. The whole exosome sequencing was
performed for the proband, followed by Sanger sequencing
for spilt-sample validation. A mammalian expression vector
(AAV-MCS) with mutated retinitis pigmentosa GTPase regulator (RPGR)
sequence was expressed in HEK293T cells. The mutated protein was verified
by Western blotting and immunohistochemistry.
Results: A novel mutation in
the RPGR gene (c.2383G>T, p.E795X) is identified
to be responsible for CORD pathogenesis. 
Conclusions: Our findings have expanded the spectrum of
CORD-associated mutations in RPGR gene and serve as a
basis for genetic diagnosis for X-linked CORD.