NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene
Abstract
:1. Introduction
2. Materials and Methods
2.1. Clinical Details
2.2. Laboratory Investigations
2.3. Variant Interpretation
3. Results and Discussion
- it is not described in the main databases (GnomAD, ExAc and 1000 Genomes) reporting variants frequency in the general population;
- it is located in a gene with a low rate of benign missense variations;
- multiple bioinformatic tools reported c.668T > A as a disease-causing variant;
- it has not been found in more than 100 control tested subjects;
- patient’s phenotype or family history is highly specific for a disease with a single genetic etiology;
- it has been detected in another affected family member;
Author Contributions
Funding
Conflicts of Interest
References
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Gene | Locus | OMIM | Size of the Target (bp) | Exons | Transcript ID | Coverage (%) |
---|---|---|---|---|---|---|
RHO | 3q22.1 | 180380 | 1147 | 5 | ENST00000296271.3 | 100 |
PRPF31 | 19q13.42 | 606419 | 1760 | 14 | ENST00000321030.8 | 100 |
PRPH2 | 6p21.1 | 179605 | 1101 | 3 | ENST00000230381.6 | 100 |
RP1 | 8q11.2-q12.1 | 603937 | 6531 | 4 | ENST00000220676.1 | 100 |
IMPDH1 | 7q32.1 | 146690 | 2154 | 17 | ENST00000338791.10 | 88.21 |
PRPF8 | 17p13.3 | 607300 | 7848 | 43 | ENST00000304992.10 | 100 |
KLHL7 | 7p15.3 | 611119 | 2060 | 11 | ENST00000339077.9 | 100 |
NR2E3 | 15q23 | 604485 | 1398 | 8 | ENST00000617575.4 | 100 |
CRX | 19q13.33 | 602225 | 960 | 4 | ENST00000221996.11 | 91.77 |
PRPF3 | 1q21.2 | 607301 | 2352 | 16 | ENST00000324862.6 | 100 |
TOPORS | 9p21.1 | 609507 | 3198 | 3 | ENST00000360538.6 | 100 |
USH2A | 1q41 | 608400 | 17043 | 72 | ENST00000307340.7 | 100 |
ABCA4 | 1p22.1 | 601691 | 7822 | 50 | ENST00000370225.3 | 100 |
PDE6A | 5q32 | 180071 | 3023 | 22 | ENST00000255266.9 | 100 |
PDE6B | 4p16.3 | 180072 | 3005 | 22 | ENST00000496514.5 | 98.2 |
RPE65 | 1p31.3 | 180069 | 1882 | 14 | ENST00000262340.5 | 100 |
CNGA1 | 4p12 | 123825 | 2460 | 10 | ENST00000402813.7 | 100 |
BEST1 | 11q12.3 | 607854 | 2214 | 9 | ENST00000449131.6 | 100 |
SEMA4A | 1q22 | 607292 | 2566 | 15 | ENST00000368285.7 | 99.96 |
EYS | 6q12 | 612424 | 10368 | 43 | ENST00000503581.5 | 100 |
CRB1 | 1q31.3 | 604210 | 4616 | 12 | ENST00000367400.7 | 100 |
CERKL | 2q31.3 | 608381 | 1957 | 13 | ENST00000410087.7 | 90.5 |
RPGR | Xp11.4 | 312610 | 4382 | 15 | ENST00000378505.7 | 82.25 |
RP2 | Xp11.3 | 300757 | 1153 | 5 | ENST00000218340.3 | 100 |
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Strafella, C.; Caputo, V.; Pagliaroli, G.; Iozzo, N.; Campoli, G.; Carboni, S.; Peconi, C.; Galota, R.M.; Zampatti, S.; Minozzi, G.; et al. NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene. Genes 2019, 10, 792. https://doi.org/10.3390/genes10100792
Strafella C, Caputo V, Pagliaroli G, Iozzo N, Campoli G, Carboni S, Peconi C, Galota RM, Zampatti S, Minozzi G, et al. NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene. Genes. 2019; 10(10):792. https://doi.org/10.3390/genes10100792
Chicago/Turabian StyleStrafella, Claudia, Valerio Caputo, Giulia Pagliaroli, Nicola Iozzo, Giulia Campoli, Stefania Carboni, Cristina Peconi, Rosaria Maria Galota, Stefania Zampatti, Giulietta Minozzi, and et al. 2019. "NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene" Genes 10, no. 10: 792. https://doi.org/10.3390/genes10100792
APA StyleStrafella, C., Caputo, V., Pagliaroli, G., Iozzo, N., Campoli, G., Carboni, S., Peconi, C., Galota, R. M., Zampatti, S., Minozzi, G., Novelli, G., Giardina, E., & Cascella, R. (2019). NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene. Genes, 10(10), 792. https://doi.org/10.3390/genes10100792