|
1
|
Stephenson K, Dockery A, Wynne N, Carrigan M, Kenna P, Farrar GJ and Keegan D: Multimodal imaging in a pedigree of X-linked retinoschisis with a novel RS1 variant. BMC Med Genet. 19(195)2018.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Grigg JR, Hooper CY, Fraser CL, Cornish EE, McCluskey PJ and Jamieson RV: Outcome measures in juvenile X-linked retinoschisis: A systematic review. Eye (Lond). 34:1760–1769. 2020.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Lee Y and Oh BL: Retinal detachment in X-linked retinoschisis. N Engl J Med. 382(1149)2020.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Lezrek O, Matsanga OR, Htiti N, Tachfouti S, Laghmari M and Lezrek M: Vitreous veils in X-linked retinoschisis. J Fr Ophtalmol. 41:571–573. 2018.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Fahim AT, Ali N, Blachley T and Michaelides M: Peripheral fundus findings in X-linked retinoschisis. Br J Ophthalmol. 101:1555–1559. 2017.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Tsang SH and Sharma T: X-linked juvenile retinoschisis. Adv Exp Med Biol. 1085:43–48. 2018.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B and Weber BH: Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 17:164–170. 1997.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Sudha D, Patric IR, Ganapathy A, Agarwal S, Krishna S, Neriyanuri S, Sripriya S, Sen P, Chidambaram S and Arunachalam JP: Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss. Ophthalmic Genet. 38:260–266. 2017.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Chen C, Xie Y, Sun T, Tian L, Xu K, Zhang X and Li Y: Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis. Mol Vis. 26:291–298. 2020.PubMed/NCBI
|
|
10
|
Huang KC, Wang ML, Chen SJ, Kuo JC, Wang WJ, Nguyen PN, Wahlin KJ, Lu JF, Tran AA, Shi M, et al: Morphological and molecular defects in human three-dimensional retinal organoid model of X-linked juvenile retinoschisis. Stem Cell Reports. 13:906–923. 2019.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Alfonso-Muñoz EA, Català-Mora J and Díaz-Cascajosa J: X-linked retinoschisis without macular retinoschisis: A new RS1 mutation. Ophthalmol Retina. 4(719)2020.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Huang L, Sun L, Wang Z, Chen C, Wang P, Sun W, Luo X and Ding X: Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis. Mol Genet Genomic Med. 8(e1421)2020.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Plössl K, Schmid V, Straub K, Schmid C, Ammon M, Merkl R, Weber BH and Friedrich U: Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis. Exp Eye Res. 177:23–34. 2018.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Huang Y, Mei L, Gui B, Su W, Liang D, Wu L and Pan Q: A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. Eye (Lond). 28:1364–1369. 2014.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Hu QR, Huang LZ, Chen XL, Xia HK, Li TQ and Li XX: Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. Sci Rep. 7(44060)2017.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Staffieri SE, Rose L, Chang A, De Roach JN, McLaren TL, Mackey DA, Hewitt AW and Lamey TM: Clinical and molecular characterization of females affected by X-linked retinoschisis. Clin Exp Ophthalmol. 43:643–647. 2015.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Vijayasarathy C, Sui R, Zeng Y, Yang G, Xu F, Caruso RC, Lewis RA, Ziccardi L and Sieving PA: Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Hum Mutat. 31:1251–1260. 2010.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Han P, Wei G, Cai K, Xiang X, Deng WP, Li YB, Kuang S, Dong Z, Zheng T, Luo Y, et al: Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis. J Cell Mol Med. 24:1286–1299. 2020.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Zheng Y, Xu J, Liang S, Lin D and Banerjee S: Whole exome sequencing identified a novel heterozygous mutation in HMBS gene in a Chinese patient with acute intermittent porphyria with rare type of mild anemia. Front Genet. 9(129)2018.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Zhang R, Chen S, Han P, Chen F, Kuang S, Meng Z, Liu J, Sun R, Wang Z, He X, et al: Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes meckel syndrome. J Cell Mol Med. 24:1906–1916. 2020.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Dai Y, Liang S, Dong X, Zhao Y, Ren H, Guan Y, Yin H, Li C, Chen L, Cui L and Banerjee S: Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. J Cell Mol Med. 23:811–818. 2019.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Gao FJ, Dong JH, Wang DD, Chen F, Hu FY, Chang Q, Xu P, Liu W, Li JK, Huang Y, et al: Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China. Acta Ophthalmol. 99:e470–e479. 2021.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Renner AB, Kellner U, Fiebig B, Cropp E, Foerster MH and Weber BH: ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. Doc Ophthalmol. 116:97–109. 2008.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Martin M: Cutadapt removes adapter sequences from high-throughput sequencing reads. Embnet J. 17(14806)2011.
|
|
25
|
Li H and Durbin R: Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics. 25:1754–1760. 2009.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, Jordan T, Shakir K, Roazen D, Thibault J, et al: From FastQ data to high confidence variant calls: The genome analysis toolkit best practices pipeline. Curr Protoc Bioinformatics. 43:11.10.1–11.10.33. 2013.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Wang K, Li M and Hakonarson H: ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38(e164)2010.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Kumar P, Henikoff S and Ng PC: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 4:1073–1081. 2009.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods. 7:248–249. 2010.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Schwarz JM, Cooper DN, Schuelke M and Seelow D: MutationTaster2: Mutation prediction for the deep-sequencing age. Nat Methods. 11:361–362. 2014.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A and Batzoglou S: Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol. 6(e1001025)2010.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Riera M, Wert A, Nieto I and Pomares E: Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. Mol Genet Genomic Med. 5:709–719. 2017.PubMed/NCBI View Article : Google Scholar
|
|
33
|
ACMG Board of Directors. ACMG policy statement: Updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med. 17:68–69. 2015.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, et al: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 15:565–574. 2013.
|
|
36
|
Seeliger D and de Groot BL: Ligand docking and binding site analysis with PyMOL and Autodock/Vina. J Comput Aided Mol Des. 24:417–422. 2010.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Ambrosio L, Hansen RM, Kimia R and Fulton AB: Retinal function in X-linked juvenile retinoschisis. Invest Ophthalmol Vis Sci. 60:4872–4881. 2019.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA and Sieving PA: X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. Invest Ophthalmol Vis Sci. 52:9250–9256. 2011.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Hinds AM, Fahim A, Moore AT, Wong SC and Michaelides M: Bullous X linked retinoschisis: Clinical features and prognosis. Br J Ophthalmol. 102:622–624. 2018.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. Hum Mol Genet. 7:1185–1192. 1998.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Stenson PD, Mort M, Ball EV, Shaw K, Phillips A and Cooper DN: The human gene mutation database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 133:1–9. 2014.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Tolun G, Vijayasarathy C, Huang R, Zeng Y, Li Y, Steven AC, Sieving PA and Heymann JB: Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina. Proc Natl Acad Sci USA. 113:5287–5292. 2016.PubMed/NCBI View Article : Google Scholar
|
|
43
|
Ramsay EP, Collins RF, Owens TW, Siebert CA, Jones RPO, Wang T, Roseman AM and Baldock C: Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. Hum Mol Genet. 25:5311–5320. 2016.PubMed/NCBI View Article : Google Scholar
|
|
44
|
Yi J, Li S, Jia X, Xiao X, Wang P, Guo X and Zhang Q: Novel RS1 mutations associated with X-linked juvenile retinoschisis. Int J Mol Med. 29:644–648. 2012.PubMed/NCBI View Article : Google Scholar
|
|
45
|
Wilkinson MF: A new function for nonsense-mediated mRNA-decay factors. Trends Genet. 21:143–148. 2005.PubMed/NCBI View Article : Google Scholar
|
|
46
|
Bashar AE, Metcalfe AL, Viringipurampeer IA, Yanai A, Gregory-Evans CY and Gregory-Evans K: An ex vivo gene therapy approach in X-linked retinoschisis. Mol Vis. 22:718–733. 2016.PubMed/NCBI
|
|
47
|
Cukras C, Wiley HE, Jeffrey BG, Sen HN, Turriff A, Zeng Y, Vijayasarathy C, Marangoni D, Ziccardi L, Kjellstrom S, et al: Retinal AAV8-RS1 gene therapy for X-linked retinoschisis: Initial findings from a phase I/IIa trial by intravitreal delivery. Mol Ther. 26:2282–2294. 2018.PubMed/NCBI View Article : Google Scholar
|
