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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Miyake, Noriko Nakamura, Makoto Terasaki, Hiroko Venturini, Giulia Ueno, Shinji Berson, Eliot L. Oh, Edwin C. Katsanis, Nicholas Beckmann, Jacques S. Matsumoto, Naomichi Kondo, Mineo Tearle, Richard G. Koskiniemi-kuendig, Hanna Liu, Yangfan P. Rivolta, Carlo Yasuma, Tetsuhiro R. Ikegawa, Shiro Benaglio, Paola Harper, Shyana Sharon, Dror Koenekoop, Robert K. Nishiguchi, Koji M. |
| Spatial Coverage | United States |
| Description | Author Affiliation: Nishiguchi KM ( Department of Medical Genetics, University of Lausanne, 1005 Lausanne, Switzerland.); |
| Abstract | We performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants. Eight patients were from North America, whereas eight were Japanese, a population for which ARRP seems to have different genetic drivers. Using a specific workflow, we assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures. We detected homozygous or compound heterozygous mutations in 7 genes associated with ARRP (USH2A, RDH12, CNGB1, EYS, PDE6B, DFNB31, and CERKL) in eight patients, three Japanese and five Americans. Fourteen of the 16 mutant alleles identified were previously unknown. Among these, there was a 2.3-kb deletion in USH2A and an inverted duplication of ~446 kb in EYS, which would have likely escaped conventional screening techniques or exome sequencing. Moreover, in another Japanese patient, we identified a homozygous frameshift (p.L206fs), absent in more than 2,500 chromosomes from ethnically matched controls, in the ciliary gene NEK2, encoding a serine/threonine-protein kinase. Inactivation of this gene in zebrafish induced retinal photoreceptor defects that were rescued by human NEK2 mRNA. In addition to identifying a previously undescribed ARRP gene, our study highlights the importance of rare structural DNA variations in Mendelian diseases and advocates the need for screening approaches that transcend the analysis of the coding sequences of the human genome. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 40 |
| Volume Number | 110 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 2013-10-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Gene Rearrangement Genetics Genome, Human Protein-Serine-Threonine Kinases Retinitis Pigmentosa Animals Frameshift Mutation Genetics, Medical Genome-Wide Association Study Molecular Sequence Data Sequence Analysis, DNA Zebrafish Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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