A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patient Studies, Clinical and Ophthalmological Examinations
2.2. Molecular Genetic Study
3. Results
3.1. Patients’ Clinical Reports
3.2. Genetic Analysis
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Known Pathogenic Variations in NRL Gene (NM_006177) | |||
---|---|---|---|
Missense/Nonsense Variations | Phenotype | Ref. | |
DNA Change | Protein Change | ||
c.91C>T | p.(Arg31Ter) | Night blindness and reduced visual acuity, Autosomal Recessive | [15] |
c.146C>T | p.(Pro49Leu) | Retinitis pigmentosa, Autosomal Dominant | [11] |
c.148T>A | p.(Ser50Thr) | Retinitis pigmentosa, Autosomal Dominant | [9] |
c.148T>C | p.(Ser50Pro) | Retinitis pigmentosa, Autosomal Dominant | [10] |
c.149C>T | p.(Ser50Leu) | Retinitis pigmentosa, Autosomal Dominant | [10] |
c.151C>A | p.(Pro51Thr) | Retinitis pigmentosa, Autosomal Dominant | [10] |
c.151C>G | p.(Pro51Ala) | Retinitis pigmentosa, Autosomal Dominant | [26] |
c.151C>T | p.(Pro51Ser) | Retinitis pigmentosa, Autosomal Dominant | [14] |
c.152C>T | p.(Pro51Leu) | Retinitis pigmentosa, Autosomal Dominant | [27] |
c.152C>G | p.(Pro51Arg) | Rod cone dystrophy, unclear mode of transmission | [28] |
c.287T>C | p.(Met96Thr) | Retinitis pigmentosa, Autosomal Dominant | [12] |
c.238C>T | p.(Gln80Ter) | Retinitis pigmentosa, Autosomal Recessive | [29] |
c.339C>G | p.(Tyr113Ter) | Goldmann-Favre syndrome, Autosomal Recessive | [30] |
c.365G>A | p.(Gly122Glu) | Retinitis pigmentosa, Autosomal Dominant | [27] |
c.416C>G | p.(Ser139Trp) | Leber congenital amaurosis, Autosomal Recessive | [31] |
c.424G>A | p.(Val142Met) | Retinitis pigmentosa, Autosomal Dominant | [13] |
c.479T>C | p.(Leu160Pro) | Clumped pigmentary retinal degeneration, Autosomal Recessive | [14] |
c.508C>A | p.(Arg170Ser) | Clumped pigmentary retinal degeneration, Autosomal Recessive | [16,19] |
c.520C>A | p.(Gln174Lys) | Leber congenital amaurosis/ retinal dystrophy, Autosomal Recessive | [32] |
c.544C>T | p.(Gln182Ter) | Retinitis pigmentosa, Autosomal Recessive | [29] |
c.674G>A | p.(Ser225Asn) | Cone dysfunction syndrome, uncertain inheritance pattern | [14] |
c.713G>T | p.(Ter238Leu) | Retinitis pigmentosa, Autosomal Recessive | [29] |
Indel Variations | Phenotype | Ref. | |
DNA Change | Protein Change | ||
c.16delA | p.(Ser6AlafsTer13) | Leber congenital amaurosis, atypical, Autosomal Recessive | [33] |
c.23delT | p.(Leu8ArgfsTer11) | Retinitis pigmentosa, Autosomal Dominant | [23] |
c.104dup | p.(Thr36fs) | Retinitis pigmentosa, Autosomal Recessive | [34] |
c.147_149delTTC | p.(Ser50del) | Retinitis pigmentosa, Autosomal Dominant | [35] |
c.223dupC | p.(Leu75ProfsTer19) | Chorioretinal Dystrophy, Autosomal Recessive | [36] |
c.223insC | p.(Leu75fsProTer18) | Enhanced S-cone syndrome uncertain inheritance pattern | [24] |
c.224_225insC | p.(Leu75fsTer) | Clumped pigmentary retinal degeneration, Autosomal Recessive | [14,24] |
c.386delC | p.(Ala129GlufsTer17) | Leber congenital amaurosis, atypical, Autosomal Recessive | [33] |
c.444_445insGCTGCGGG | p.(Leu149AlafsTer15) | Retinitis pigmentosa, Autosomal Recessive | [18] |
c.452_459dupGCTGCGGG | p.(Arg154AlafsTer10) | Retinitis pigmentosa, Autosomal Recessive | [18] |
c.586_627dupGCCCAGCTGGACGCGCTGCGGGCCGAGGTGGCCCGCCTGGCC | p.(Ala196_Ala209dup) | Retinal disease, Autosomal Dominant | [37] |
c.654delC | p.(Cys219ValfsTer4) | Leber congenital amaurosis, Autosomal Recessive | [14,19] |
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Iarossi, G.; Sinibaldi, L.; Passarelli, C.; Coppe’, A.M.; Cappelli, A.; Petrocelli, G.; Catena, G.; Perrone, C.; Falsini, B.; Novelli, A.; et al. A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients. Diagnostics 2022, 12, 2183. https://doi.org/10.3390/diagnostics12092183
Iarossi G, Sinibaldi L, Passarelli C, Coppe’ AM, Cappelli A, Petrocelli G, Catena G, Perrone C, Falsini B, Novelli A, et al. A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients. Diagnostics. 2022; 12(9):2183. https://doi.org/10.3390/diagnostics12092183
Chicago/Turabian StyleIarossi, Giancarlo, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppe’, Alessandro Cappelli, Gianni Petrocelli, Gino Catena, Chiara Perrone, Benedetto Falsini, Antonio Novelli, and et al. 2022. "A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients" Diagnostics 12, no. 9: 2183. https://doi.org/10.3390/diagnostics12092183