Current mutation discovery approaches in Retinitis Pigmentosa.

作者: Ander Anasagasti , Cristina Irigoyen , Olatz Barandika , Adolfo López de Munain , Javier Ruiz-Ederra

DOI: 10.1016/J.VISRES.2012.09.012

关键词: Human genomeBiologyDNA sequencingRetinitis pigmentosaDiseaseInheritance PatternsRetinal degenerationMutation (genetic algorithm)Compound heterozygosityGenetics

摘要: With a worldwide prevalence of about 1 in 3500-5000 individuals, Retinitis Pigmentosa (RP) is the most common form hereditary retinal degeneration. It an extremely heterogeneous group genetically determined diseases leading to progressive loss vision due impairment rod and cone photoreceptors. RP can be inherited as autosomal-recessive, autosomal-dominant, or X-linked trait. Non-Mendelian inheritance patterns such digenic, maternal (mitochondrial) compound heterozygosity have also been reported. To date, more than 65 genes implicated syndromic non-syndromic forms RP, which account for only 60% all cases. Due this high heterogeneity diversity patterns, molecular diagnosis very challenging, heritability 40% total cases remains unknown. However new sequencing methodologies, boosted by human genome project, contributed exponential plummeting costs, thereby making it feasible include testing patients routine clinical practice within coming years. Here, we summarize widely used state-of-the-art technologies currently applied address their strengths weaknesses complex genetic disease.

参考文章(156)
Eric S Lander, None, Initial impact of the sequencing of the human genome Nature. ,vol. 470, pp. 187- 197 ,(2011) , 10.1038/NATURE09792
Boris Keren, Cedric Le Caignec, Oligonucleotide microarrays in constitutional genetic diagnosis. Expert Review of Molecular Diagnostics. ,vol. 11, pp. 521- 532 ,(2011) , 10.1586/ERM.11.32
Kelly Shintani, Diana L. Shechtman, Andrew S. Gurwood, Review and update: Current treatment trends for patients with retinitis pigmentosa Optometry - Journal of The American Optometric Association. ,vol. 80, pp. 384- 401 ,(2009) , 10.1016/J.OPTM.2008.01.026
R. E. MacLaren, R. A. Pearson, A. MacNeil, R. H. Douglas, T. E. Salt, M. Akimoto, A. Swaroop, J. C. Sowden, R. R. Ali, Retinal repair by transplantation of photoreceptor precursors Nature. ,vol. 444, pp. 203- 207 ,(2006) , 10.1038/NATURE05161
Esther Pomares, Marina Riera, Jon Permanyer, Pilar Méndez, Joaquín Castro-Navarro, Ángeles Andrés-Gutiérrez, Gemma Marfany, Roser Gonzàlez-Duarte, Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects European Journal of Human Genetics. ,vol. 18, pp. 118- 124 ,(2010) , 10.1038/EJHG.2009.114
Lorne Lonie, Daniel E. Porter, Maria Fraser, Trevor Cole, Carol Wise, Laura Yates, Emma Wakeling, Ed Blair, Eva Morava, Anthony P. Monaco, Jiannis Ragoussis, Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Human Mutation. ,vol. 27, pp. 1160- 1160 ,(2006) , 10.1002/HUMU.9467
Benjamin P Howden, Christopher RE McEvoy, David L Allen, Kyra Chua, Wei Gao, Paul F Harrison, Jan Bell, Geoffrey Coombs, Vicki Bennett-Wood, Jessica L Porter, Roy Robins-Browne, John K Davies, Torsten Seemann, Timothy P Stinear, None, Evolution of multidrug resistance during Staphylococcus aureus infection involves mutation of the essential two component regulator WalKR. PLOS Pathogens. ,vol. 7, pp. 1- 15 ,(2011) , 10.1371/JOURNAL.PPAT.1002359
A. V. Smith, Retrieving HapMap Data Using HapMart. CSH Protocols. ,vol. 2008, ,(2008) , 10.1101/PDB.PROT5026
Francesco Parmeggiani, Francesco S. Sorrentino, Diego Ponzin, Vanessa Barbaro, Stefano Ferrari, Enzo Di Iorio, Retinitis Pigmentosa: Genes and Disease Mechanisms Current Genomics. ,vol. 12, pp. 238- 249 ,(2011) , 10.2174/138920211795860107