Molecular genetics of FAM161A in north american patients with early-onset retinitis pigmentosa

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Venturini, Giulia ^a   Di Gioia, Silvio Alessandro ^a   Harper, Shyana ^b   Weigel DiFranco, Carol ^b   Rivolta, Carlo ^a   Berson, Eliot L ^b  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; ELECTRORETINOGRAPHY; ETHNIC DIFFERENCE; FAM161A GENE; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; LYMPHOBLAST; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NORTH AMERICA; PEDIGREE ANALYSIS; PHENOTYPE; RETINITIS PIGMENTOSA; SCHOOL CHILD; VISUAL ACUITY; VISUAL FIELD DEFECT; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; ALTERNATIVE SPLICING; CASE-CONTROL STUDIES; CHILD; EYE PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MUTATION; NONSENSE MEDIATED MRNA DECAY; NORTH AMERICA; OPTIC DISK; PHENOTYPE; RETINITIS PIGMENTOSA; TRANSCRIPTION, GENETIC; YOUNG ADULT;

EID: 84898631979     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0092479     Document Type: Article

References (17)

1. Berson EL (1993) Retinitis pigmentosa. The Friedenwald Lecture. Invest Ophthalmol Vis Sci 34: 1659-1676.
2. Hartong DT, Berson EL, Dryja TP (2006) Retinitis pigmentosa. Lancet 368: 1795-1809. (Pubitemid 44739028)
3. Daiger SP, Bowne SJ, Sullivan LS (2007) Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 125: 151-158.
4. Gu S, Kumaramanickavel G, Srikumari CR, Denton MJ, Gal A (1999) Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. J Med Genet 36: 705-707. (Pubitemid 29433731)
5. Langmann T, Di Gioia SA, Rau I, Stohr H, Maksimovic NS, et al. (2010) Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa. Am J Hum Genet 87: 376-381.
6. Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, et al. (2010) Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am J Hum Genet 87: 382-391.
7. Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, et al. (2012) FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Hum Mol Genet 21: 5174-5184.
8. Zach F, Grassmann F, Langmann T, Sorusch N, Wolfrum U, et al. (2012) The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. Hum Mol Genet 21: 4573-4586.
9. Berson EL, Rosner B, Sandberg MA, Hayes KC, Nicholson BW, et al. (1993) A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol 111: 761-772. (Pubitemid 23170587)
10. Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, et al. (2006) Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat 27: 644-653.
11. Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, et al. (2008) Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 118: 1519-1531. (Pubitemid 351500445)
12. Hentze MW, Kulozik AE (1999) A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96: 307-310. (Pubitemid 29077583)
13. Smigielski EM, Sirotkin K, Ward M, Sherry ST (2000) dbSNP: a database of single nucleotide polymorphisms. Nucleic Acids Res 28: 352-355. (Pubitemid 30047805)
14. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
15. Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31: 3812-3814. (Pubitemid 37442253)
16. Mort M, Sterne-Weiler T, Li B, Ball EV, Cooper DN, et al. (2014) MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biol 15: R19.
17. Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, et al. (2005) PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21: 3176-3178. (Pubitemid 41418475)