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Next-generation sequencing (NGS) was then applied to two affected family members with RP (III:9 and IV:1), who did not have CYP4V2 mutations, then to identify disease-causing variants in 47 RP-related genes including the PRPF31, CRB1, PRPF8, CA4, TULP1, PRPF3, ABCA4, RPE65, EYS, CERKL, NRL, FAM161A, FSCN2, TOPORS, SNRNP200, SEMA4A, PRCD, NR2E3, MERTK, USH2A, PDE6B, PROM1, KLHL7, PDE6A, RGR, CNGB1, IDH3B, SAG, GUCA1B, CNGA1, BEST1, TTC8, C2orf71, ARL6, IMPG2, PDE6G, ZNF513, DHDDS, PRPF6, CLRN1, MAK, CDHR1, FLVCR1, RLBP1, SPATA7, AIPL1, and LRAT genes.
Gene Retina Pineal CNGB1 * * CYP4V2 * IMPDH1 * MERTK1 * NPHP1 * PDE6A * PED6B * * PRPH2 * * RDH12 * * RDS * RHO * ROM1 * * RPGR * SPATA7 * TOPORS * TULP1 * * USH2A * * CHR14 * SNRNP200 * Table 2 Age-related macular degeneration gene expression.
Pittler, "A PDE6A promoter fragment directs transcription predominantly in the photoreceptor," Biochemical and Biophysical Research Communications, vol.
Characterization of a canine modelo f autosomal recessive retinitis pigmentosa due to a PDE6A mutation.
In the second study, the CUMC researchers tested whether gene therapy could be used to improve photoreceptor survival and neuronal function in mice with RP caused by a mutation to a gene called phosphodiesterase-alpha (Pde6a) --a common form of the disease in humans.
"These results provide support that RP due to PDE6a deficiency in humans is also likely to be treatable by gene therapy," Tsang said.
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