Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing

被引：2

作者：

Bolz, Hanno Joern ^{[1
,2
]}

机构：

[1] Senckenberg Zentrum Humangenet, Frankfurt, Germany

[2] Univ Klinikum Koln, Inst Humangenet, Cologne, Germany

来源：

KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE | 2018年 / 235卷 / 03期

关键词：

genetics; next-generation sequencing; retinal dystrophies; allelic disorders; RETINITIS-PIGMENTOSA; MOLECULAR DIAGNOSIS; MUTATIONS; DYSTROPHY; DISEASE; PREVALENCE; PHENOTYPE; PROTEIN; GENES; RP1;

D O I：

10.1055/s-0043-122076

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Within a few years, high-throughput sequencing (next-generation sequencing, NGS) has become a routine method in genetic diagnostics and has largely replaced conventional Sanger sequencing. The complexity of NGS data requires sound bioinformatic analysis: pinpointing the disease-causing variants may be difficult, and erroneous interpretations must be avoided. When looking at the group of retinal dystrophies as an example of eye disorders with extensive genetic heterogeneity, one can clearly say that NGS-based diagnostics yield important information for most patients and physicians, and that it has furthered our knowledge significantly. Furthermore, NGS has accelerated ophthalmogenetic research aimed at the identification of novel eye disease genes.

引用

页码：258 / 263

页数：6

共 30 条

[1]

Aldahmesh MA, 2009, MOL VIS, V15, P2464

[2] Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing [J].

Bell, Callum J. ;

Dinwiddie, Darrell L. ;

Miller, Neil A. ;

Hateley, Shannon L. ;

Ganusova, Elena E. ;

Mudge, Joann ;

Langley, Ray J. ;

Zhang, Lu ;

Lee, Clarence C. ;

Schilkey, Faye D. ;

Sheth, Vrunda ;

Woodward, Jimmy E. ;

Peckham, Heather E. ;

Schroth, Gary P. ;

Kim, Ryan W. ;

Kingsmore, Stephen F. .

SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (65)

[3] The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy [J].

Bifari, Inam N. ;

Elkhamary, Sahar M. ;

Bolz, Hanno J. ;

Khan, Arif O. .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2016, 100 (06) :829-833

[4] Next-Generation Sequencing: A Quantum Leap in Ophthalmology Research and Diagnostics [J].

Bolz, H. J. .

KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2017, 234 (03) :280-288

[5] International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases [J].

Boycott, Kym M. ;

Rath, Ana ;

Chong, Jessica X. ;

Hartley, Taila ;

Alkuraya, Fowzan S. ;

Baynam, Gareth ;

Brookes, Anthony J. ;

Brudno, Michael ;

Carracedo, Angel ;

den Dunnen, Johan T. ;

Dyke, Stephanie O. M. ;

Estivill, Xavier ;

Goldblatt, Jack ;

Gonthier, Catherine ;

Groft, Stephen C. ;

Gut, Ivo ;

Hamosh, Ada ;

Hieter, Philip ;

Hoehn, Sophie ;

Hurles, Matthew E. ;

Kaufmann, Petra ;

Knoppers, Bartha M. ;

Krischer, Jeffrey P. ;

Macek, Milan, Jr. ;

Matthijs, Gert ;

Olry, Annie ;

Parker, Samantha ;

Paschall, Justin ;

Philippakis, Anthony A. ;

Rehm, Heidi L. ;

Robinson, Peter N. ;

Sham, Pak-Chung ;

Stefanov, Rumen ;

Taruscio, Domenica ;

Unni, Divya ;

Vanstone, Megan R. ;

Zhang, Feng ;

Brunner, Han ;

Bamshad, Michael J. ;

Lochmueller, Hanns .

AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (05) :695-705

[6] Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome [J].

Bujakowska, Kinga M. ;

Zhang, Qi ;

Siemiatkowska, Anna M. ;

Liu, Qin ;

Place, Emily ;

Falk, Marni J. ;

Consugar, Mark ;

Lancelot, Marie-Elise ;

Antonio, Aline ;

Lonjou, Christine ;

Carpentier, Wassila ;

Mohand-Said, Saddek ;

den Hollander, Anneke I. ;

Cremers, Frans P. M. ;

Leroy, Bart P. ;

Gai, Xiaowu ;

Sahel, Jose-Alain ;

van den Born, L. Ingeborgh ;

Collin, Rob W. J. ;

Zeitz, Christina ;

Audo, Isabelle ;

Pierce, Eric A. .

HUMAN MOLECULAR GENETICS, 2015, 24 (01) :230-242

[7] Novel Recessive Cone-Rod Dystrophy Caused by POC1B Mutation [J].

Durlu, Yusuf K. ;

Koroglu, Cigdem ;

Tolun, Aslihan .

JAMA OPHTHALMOLOGY, 2014, 132 (10) :1185-1191

[8] Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies [J].

Eisenberger, Tobias ;

Neuhaus, Christine ;

Khan, Arif O. ;

Decker, Christian ;

Preising, Markus N. ;

Friedburg, Christoph ;

Bieg, Anika ;

Gliem, Martin ;

Issa, Peter Charbel ;

Holz, Frank G. ;

Baig, Shahid M. ;

Hellenbroich, Yorck ;

Galvez, Alberto ;

Platzer, Konrad ;

Wollnik, Bernd ;

Laddach, Nadja ;

Ghaffari, Saeed Reza ;

Rafati, Maryam ;

Botzenhart, Elke ;

Tinschert, Sigrid ;

Boerger, Doris ;

Bohring, Axel ;

Schreml, Julia ;

Koertge-Jung, Stefani ;

Schell-Apacik, Chayim ;

Bakur, Khadijah ;

Al-Aama, Jumana Y. ;

Neuhann, Teresa ;

Herkenrath, Peter ;

Nuernberg, Gudrun ;

Nuernburg, Peter ;

Davis, John S. ;

Gal, Andreas ;

Bergmann, Carsten ;

Lorenz, Birgit ;

Bolz, Hanno J. .

PLOS ONE, 2013, 8 (11)

[9] Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene [J].

Elsayed, Solaf M. ;

Phillips, Jennifer B. ;

Heller, Raoul ;

Thoenes, Michaela ;

Elsobky, Ezzat ;

Nuernberg, Gudrun ;

Nuernberg, Peter ;

Seland, Saskia ;

Ebermann, Inga ;

Altmueller, Janine ;

Thiele, Holger ;

Toliat, Mohammad ;

Koerber, Friederike ;

Hu, Xue-Jia ;

Wu, Yun-Dong ;

Zaki, Maha S. ;

Abdel-Salam, Ghada ;

Gleeson, Joseph ;

Boltshauser, Eugen ;

Westerfield, Monte ;

Bolz, Hanno J. .

HUMAN MOLECULAR GENETICS, 2015, 24 (09) :2594-2603

[10] BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome [J].

Estrada-Cuzcano, Alejandro ;

Koenekoop, Robert K. ;

Senechal, Audrey ;

De Baere, Elfride B. W. ;

de Ravel, Thomy ;

Banfi, Sandro ;

Kohl, Susanne ;

Ayuso, Carmen ;

Sharon, Dror ;

Hoyng, Carel B. ;

Hamel, Christian P. ;

Leroy, Bart P. ;

Ziviello, Carmela ;

Lopez, Irma ;

Bazinet, Alexandre ;

Wissinger, Bernd ;

Sliesoraityte, Ieva ;

Avila-Fernandez, Almudena ;

Littink, Karin W. ;

Vingolo, Enzo M. ;

Signorini, Sabrina ;

Banin, Eyal ;

Mizrahi-Meissonnier, Liliana ;

Zrenner, Eberhard ;

Kellner, Ulrich ;

Collin, Rob W. J. ;

den Hollander, Anneke I. ;

Cremers, Frans P. M. ;

Klevering, Jeroen .

ARCHIVES OF OPHTHALMOLOGY, 2012, 130 (11) :1425-1432

← 1 2 3 →