Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9
Abstract
:1. Introduction
2. Case Presentation
3. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Right Eye (µV/ms) | Left Eye (µV/ms) | Normal Reference Limit (µV-Minimum/ms-Maximum) | ||
---|---|---|---|---|
DA 0.01 | a wave (amp/implicit time) | −1.519/36.5 | −9.616/45 | 1.0/47 |
b wave (amp/implicit time) | 14.3/94.5 | 9.754/97.5 | 70/108.6 | |
DA 3.0 | a wave (amp/implicit time) | −73.98/17.5 | −48.26/17 | −94/20.3 |
b wave (amp/implicit time) | 36.72/57.5 | 37.48/43.5 | 174/56.8 | |
DA 10.0 | a wave (amp/implicit time) | −91.94/15.5 | −69.22/15.5 | −113/15.42 |
b wave (amp/implicit time) | 51.5/53.5 | 45.83/35 | 200/54.3 | |
LA 3.0 | a wave (amp/implicit time) | −10.63/12.5 | −7/16 | −15.2/16.7 |
b wave (amp/implicit time) | 30/32.5 | 40.52/32.5 | 56.6/34 | |
LA FLICKER 30 Hz | Amplitude/ time (msec) | 32.21/30.5 | 18.31/29 | 57.2/30.3 |
Trough (msec) | 15 | 15 | 15.3 |
Prediction Tool | Prediction (Score) | Scale |
---|---|---|
Mutation Taster | Deleterious (1) | 0–1, higher scores reflecting a greater likelihood that the variant is deleterious |
Missense prediction tools | ||
Revel | Deleterious (0.76) | 0–1, higher scores reflecting a greater likelihood that the variant is deleterious |
Polyphen2 | Deleterious (1) | 0–1, higher scores reflecting a greater likelihood that the variant is deleterious |
DANN | Deleterious (1) | 0–1, higher scores reflecting a greater likelihood that the variant is deleterious |
MetaLR | Deleterious (0.71) | 0–1, higher scores reflecting a greater likelihood that the variant is deleterious |
BayesDel | Deleterious (0.13) | (−1.29334)–0.75731, Deleterious: >(−0.0570105) |
SIFT | Uncertain (0.001) | 0–1, Deleterious: <0.001 |
FATHMM | Uncertain (−1.74) | (−16.13)–10.64, Deleterious: <(−4.14) |
PrimateAI | Uncertain (0.74) | 0–1, Deleterious: >0.803 |
AlphaMissense | Uncertain (0.477) | 0–1, Deleterious: >0.761 |
Splice-site prediction tools | ||
dbscSNV Ada | Deleterious (0.99) | 0–1, higher scores reflecting a greater likelihood that the variant is deleterious |
dbscSNV RF | Deleterious (0.74) | 0–1, higher scores reflecting a greater likelihood that the variant is deleterious |
SpliceAI | Uncertain (0.12) | 0–1, Deleterious: >0.2 |
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Deitch, I.; Itskov, S.; Panneman, D.; Abu Shtaya, A.; Saban, T.; Goldberg, Y.; Ehrenberg, M.; Cremers, F.P.M.; Roosing, S.; Ben-Yosef, T. Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9. Curr. Issues Mol. Biol. 2024, 46, 2566-2575. https://doi.org/10.3390/cimb46030163
Deitch I, Itskov S, Panneman D, Abu Shtaya A, Saban T, Goldberg Y, Ehrenberg M, Cremers FPM, Roosing S, Ben-Yosef T. Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9. Current Issues in Molecular Biology. 2024; 46(3):2566-2575. https://doi.org/10.3390/cimb46030163
Chicago/Turabian StyleDeitch, Iris, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P. M. Cremers, Susanne Roosing, and Tamar Ben-Yosef. 2024. "Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9" Current Issues in Molecular Biology 46, no. 3: 2566-2575. https://doi.org/10.3390/cimb46030163