Retinitis Pigmentosa 68

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

C8orf37, PDE6B, PDE6A, CRX, RPGR, RPE65, PDE6G, LRAT, ABCA4, EYS, MERTK, IMPDH1, ROM1, RHO, USH2A, CRB1, CNGB1, RPGRIP1, GUCY2D, RP2, NRL, RBP3, CLRN1, RDH12, SAG, SPATA7, CNGA1, ARL6, AIPL1, REEP6

C8orf37, PDE6B, PDE6A, CRX, RPGR, RPE65, PDE6G, LRAT, ABCA4, EYS, MERTK, IMPDH1, ROM1, RHO, USH2A, CRB1, CNGB1, RPGRIP1, GUCY2D, RP2, NRL, RBP3, CLRN1, RDH12, SAG, SPATA7, CNGA1, ARL6, AIPL1, REEP6, RGR, DHX38, GUCA1B, OFD1, IDH3A, IDH3B, PRPF8, RP1, FAM161A, TULP1, SNRNP200, PRPF31, CERKL, NR2E3, CA4, MAK, PRCD, PRPF3, RLBP1, PROM1, PCARE, CHM, ARL2BP, TOPORS, BBS1, CYP4V2, BEST1, DHDDS, KLHL7, IMPG2, HGSNAT, IFT140, PRPF6, BBS2, TTC8, AHI1, SCAPER, CLN3, IFT172, CDHR1, KIZ, FLVCR1, TTPA, ARL3, PRPF4, AGBL5, RP9, SLC7A14, FSCN2, POMGNT1, ZNF513, ZNF408, RBP4, ABHD12, UNC119, NEK2, AHR, TUB, SEMA4A, ATF6, IFT88, FOXI2, UBAP1L, CCZ1B, CROCC, PDAP1, FAM71A, KIAA1549, IRX5, ARHGEF18, C1QTNF5, PRTFDC1, SLC37A3, NAALADL1, CRB2, NGF, CEP250, CWC27, CCDC66, GRIN2B, PRPH2, AGTPBP1, SLC6A6, AIFM1, FGFR2, KL, MT2A, PTEN, MYO7A, CEP290, GUCA1A, RDH5, CDH23, IQCB1, MSTO1, CACNA1A, BBS4, ATXN7, USH1C, CFAP410, ATP6, PANK2, MKKS, BBS9, SLC24A1, PEX1, RP1L1, HADHA, PNPLA6, SDCCAG8, BBS12, NDUFAF5, RRM2B, PDHA1, NDUFS8, NDUFV2, LZTFL1, FOXRED1, POMT2, RCBTB1, TST, FKRP, BBS7, CNGB3, NCAPG2, NPHP1, MKS1, NDUFB11, SURF1, SDHB, PEX2, WDPCP, PRPH, NDUFV1, NDUFA13, SCN1A, SCO1, SDHA, SDHD, PHYH, TACO1, LIPT1, SLC19A1, NDUFA12, PEX5, NGLY1, ALMS1, LARGE1, NDUFS4, PRDX1, NDUFS3, POLR3A, MFSD8, ZDHHC24, RNASEH1, CTNS, ARL13B, TRIM32, NIPAL1, ECHS1, FASTKD2, ERCC3, POMT1, ERCC6, ERG, IFT27, NDUFAF6, BBS5, NDUFS2, CLRN1-AS1, COX20, CYGB, COX15, COX10, COX8A, COX7B, CDH23-AS1, ACOX1, C8orf37-AS1, MMACHC, JAG1, AMACR, AIRE, PET100, SDHAF1, ZFYVE26, PHF3, ATP1A2, BCS1L, NDUFS7, CAV1, TTLL5, VSX2, ERCC8, COX6B1, PRRT2, MTFMT, GSS, COL18A1, GMPPB, HADHB, ND1, ND2, ND3, ND4, ND5, ND6, TRNK, TRNL1, TRNN, TRNS1, TRNV, TRNW, TRIM37, BBS10, NDUFA2, NDUFA4, NDUFA9, NDUFA10, NDUFS1, SLC19A3, WFS1, BBIP1, COA8, HCCS, NDUFAF2, HADH, TMEM14B, COX14, PLXNA2, LSM2, TRNT1, CLU, MFRP, PCDH15, DHX16, PTPRC, SLU7, KLK3, SIGMAR1, NXNL1, CLTA, CNTF, NT5C2, RPE, PROS1, PLAG1, NPHP4, TIMP3, PSAT1, NPEPPS, MYP2, CXCR6, RIMS1, RRH, SLC19A2, EXOSC2, ADIPOR1, LPAR2, USP9X, COG4, VCP, EDN1, LCA5, PDC, ATN1, OTX2, OTC, CNOT3, MVK, LPCAT1, MMP9, EDNRA, RCC1, EPO, INS, FANCF, HSPA4, HK1, GNAT1, HIF1A, OPN4, GSN, SERPINF1, GPR42, NSMCE3, GRK1, ALDH3A2, SFRP2, ACKR3, ADRA1A, ARL2, ATXN2, CC2D2A, ADRA2B, WDR19, SOD3, PLIN2, SSTR4, BRS3, STC1, ACTB, NRG4, TWIST2, GRK7, POC5, ARMS2, MFT2, SAMD11, SAMD7, NOC2L, JAKMIP1, MIR204, POLDIP2, GUCY2EP, LIN28B, NPHP3, ARSI, RD3, CENPV, PITPNM3, INVS, CENPK, TENT5A, CYCS, DCUN1D1, TWNK, SLC2A4RG, TBX20, RDH11, PNPLA2, KIDINS220, NGB, MPP4, NYX, TNMD, ENFL2, TUT1, DNER, FTO, ELOVL6, ALG12, RNF19A, COQ8B, SETD2, KLF15, PDZD7, HKDC1, C5AR2, DNAJC17, ADGRV1, CEP78, GNPTG, AAVS1, THBS2, WHRN, MMP2, HMOX1, HK2, HGF, GRM5, GRM1, GRB10, GLO1, GK, GJB2, GDNF, GDF2, G6PD, FRZB, FN1, FGF5, FGF2, FBN2, HSP90AA1, IDH2, IFNG, INSR, MEIS2, MDH1, MAP1A, SMAD4, LTB, LAMP1, ISG20, ING1, IGF1, IMPA1, CXCL8, IL6, IL2RA, IL1B, IL1A, CCN1, FASN, ETV5, ERN1, ALDH7A1, CACNA1F, C5AR1, C3, C1QBP, BSG, BMP4, BCL2, ARRB2, CANX, ARR3, ABCC6, APOE, APOB, AMFR, ADH7, ABO, CACNA1S, CCT, ERBB2, CYBB, EGF, E2F1, DUSP6, DNMT3A, CFD, ACE, CYLD, CTNNB1, CD44, MAPK14, CRYAB, CRK, CP, CORD1, COL2A1, CD74, RAB8A, MSR1, SH3BP4, CYTB, SYNJ1, FGF18, HSD17B6, DGKE, BRAP, SMC1A, USP11, AIMP2, PAX8, ZNF132, ZFP36, USH1E, TSC1, TP53, TNF, TMPRSS2, TSPAN7, SMC3, ARHGEF2, CRLF1, AKT3, TMED3, SIRT1, ARC, MAPRE3, ARPP21, AHSA1, PPIH, HEPH, SNAP29, PLEKHM1, PHYHIP, HDAC4, KNTC1, EIF2AK3, GRAP2, EFTUD2, TIMP2, TIMP1, DYNLT3, PKNOX1, HTRA1, PRNP, MAPK1, PRKCG, POLG, PMM2, PLAU, PIM1, RAC1, PGF, CFP, PDGFRB, NPTX2, NFE2L2, NAGLU, MYC, ALDH18A1, RASGRF1, ELOVL4, SFTPD, STATH, SOS1, SOD1, SNRPB, SNCA, SLC2A1, SGSH, SFRP5, RBP1, SEC14L1, CX3CL1, CCL2, S100A6, RPS6KB1, RPS6, RCVRN, H3P22

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A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-68 (RP68) is caused by homozygous or compound heterozygous mutation in the SLC7A14 gene (615720) on chromosome 3q26.

For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.

Clinical Features

Jin et al. (2014) studied a Chinese man, born of first-cousin parents, who in childhood developed night blindness and a visual field defect. Visual acuity in both eyes progressively decreased to hand motion only by 35 years of age. Fundus photography and optical coherence tomography (OCT) revealed typical intraretinal bone-spicule pigmentation, large spots of retinal atrophy, and overall thinning of the outer retinal layer. Electroretinogram (ERG) responses were extinguished. There were no other affected family members. The severely affected structure and function of the retina supported the clinical diagnosis of retinitis pigmentosa (RP).

Molecular Genetics

In a 35-year-old Chinese man with RP from a consanguineous family, Jin et al. (2014) screened 144 genes known to be related to RP but found no pathologic mutations. Whole-exome sequencing followed by homozygosity analysis identified a homozygous missense variant in the SLC7A14 gene (G330R; 615720.0001) that was confirmed by Sanger sequencing and segregated with disease in the family. Screening of 247 unrelated patients with autosomal recessive RP identified 4 more individuals with homozygous or compound heterozygous mutations in SLC7A14 (615720.0002-615720.0004); these patients were comprehensively screened by targeted exome sequencing of known RP-related genes, and no additional mutations were detected. In 12 of the probands, a single heterozygous variant in SLC7A14 was found; 3 of the probands were also found to carry a mutation in a known RP-related gene. The authors did not believe the disease in these 12 patients was caused by the SLC7A14 variant. Overall, the frequency of SLC7A14 mutations in Chinese autosomal recessive RP patients was 2% (5 of 248 cases).

Animal Model

Jin et al. (2014) developed a zebrafish model of slc7a14 knockdown and observed an aberrant light-induced locomotor response, strongly suggesting that SLC7A14 has an important role in photoreceptor development and function and that its dysfunction can lead to visual impairment. Jin et al. (2014) also generated Slc7a14-deficient mice, which had abnormal responses on ERG at ages 2 months and 6 months; OCT showed a trend toward reduced thickness of the outer retina in 2.5-month-old knockout mice, and histology confirmed a slightly thinner retinal layer. Jin et al. (2014) concluded that ablation of Slc7a14 protein in mice results in retinal degeneration that recapitulates the disease phenotype in autosomal recessive RP patients with SLC7A14 mutations.