Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign

Molecular Vision

Volumn 19, Issue , 2013, Pages 980-985

  Strom, Samuel P ^a   Gorin, Michael B ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AIPL1 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT RETINAL DYSTROPHY; BEST1 GENE; C1QTNF5 GENE; CA4 GENE; COHORT ANALYSIS; CRB1 GENE; CRX GENE; EFEMP1 GENE; ELOVL4 GENE; FSCN2 GENE; GENE; GENE FREQUENCY; GENETIC VARIABILITY; GUCA1A GENE; GUCA1B GENE; GUCY2D GENE; HMCN1 GENE; IMPDH1 GENE; KLHL7 GENE; MISSENSE MUTATION; NONSENSE MUTATION; NR2E3 GENE; NRL GENE; PITPNM3 GENE; PRIORITY JOURNAL; PROM1 GENE; PRPF3 GENE; PRPF31 GENE; PRPF6 GENE; PRPF8 GENE; PRPH2 GENE; RETINA DYSTROPHY; RHO GENE; RIMS1 GENE; ROM1 GENE; RP1 GENE; RP1L1 GENE; RP9 GENE; RPE65 GENE; SEMA4A GENE; SNRNP200 GENE; TIMP3 GENE; TOPORS GENE; UNC119 GENE;

CODON, NONSENSE; COHORT STUDIES; DATABASES, GENETIC; GENES, DOMINANT; HUMANS; MUTATION, MISSENSE; OPEN READING FRAMES; RETINAL DYSTROPHIES;

EID: 84877722049     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, Németh AH. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur J Hum Genet 2013; 21:274-80. [PMID: 22968130].
2. Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB. Molecular diagnosis of putative stargardt disease probands by exome sequencing. BMC Med Genet 2012; 13:67-76. [PMID: 22863181].
3. Gullapalli RR, Desai KV, Santana-Santos L, Kant JA, Becich MJ. Next generation sequencing in clinical medicine: Challenges and lessons for pathology and biomedical informatics. J Pathol Inform 2012; 3.
4. ten Bosch JR, Grody WW. Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J Mol Diagn 2008; 10:484-92. [PMID: 18832462].
5. Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited Cardiomyopathies: Molecular Genetics and Clinical Genetic Testing in the Postgenomic Era. J Mol Diagn 2013; 15:158-70. [PMID: 23274168].
6. Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS. New population-based exome data are ques- tioning the pathogenicity of previously cardiomyopathy- associated genetic variants. Eur J Hum Genet 2013; [PMID: 23299917].
7. Sullivan LS, Browne SJ, Daiger SP. Retinal Information Network: RETNET. [cited 2012 December]; Available from: https://sph.uth.edu/retnet/
8. NHLBI Exome Sequencing Project (ESP). Exome Variant Server. [cited 2012 December]; Available from: http://evs.gs.washington.edu/EVS/
9. González-Pérez A, López-Bigas N. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 2011; 88:440-9. [PMID: 21457909].
10. Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM. GO B, GO S, Project NES. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012; 337:64-9. [PMID: 22604720].
11. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7:248-9. [PMID: 20354512].
12. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31:3812-4. [PMID: 12824425].
13. Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res 2011; 39:e118. [PMID: 21727090].
14. Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet 2012; 380:1674-82. [PMID: 23020937].
15. Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR. RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy. Hum Mutat 2013; 34:506-14. [PMID: 23281133].
16. Neale BM, Kou Y, Liu L, Maayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012; 485:242-5. [PMID: 22495311].