The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Exome Sequencing Identifies ZNF644 Mutations in High Myopia
Open accessAbstract
Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Genetic factors play a critical role in the development of myopia, especially high myopia. Recently, the exome sequencing approach has been successfully used for the disease gene identification of Mendelian disorders. Here we show a successful application of exome sequencing to identify a gene for an autosomal dominant disorder, and we have identified a gene potentially responsible for high myopia in a monogenic form. We captured exomes of two affected individuals from a Han Chinese family with high myopia and performed sequencing analysis by a second-generation sequencer with a mean coverage of 30× and sufficient depth to call variants at ∼97% of each targeted exome. The shared genetic variants of these two affected individuals in the family being studied were filtered against the 1000 Genomes Project and the dbSNP131 database. A mutation A672G in zinc finger protein 644 isoform 1 (ZNF644) was identified as being related to the phenotype of this family. After we performed sequencing analysis of the exons in the ZNF644 gene in 300 sporadic cases of high myopia, we identified an additional five mutations (I587V, R680G, C699Y, 3'UTR+12 C>G, and 3'UTR+592 G>A) in 11 different patients. All these mutations were absent in 600 normal controls. The ZNF644 gene was expressed in human retinal and retinal pigment epithelium (RPE). Given that ZNF644 is predicted to be a transcription factor that may regulate genes involved in eye development, mutation may cause the axial elongation of eyeball found in high myopia patients. Our results suggest that ZNF644 might be a causal gene for high myopia in a monogenic form.
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Citations
Cites
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030
Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.11.036 · Cited by 1,235
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Roach, J. C., Glusman, G., Smit, A. F. A., Huff, C. D., Hubley, R., Shannon, P. T., Rowen, L., Pant, K. P., Goodman, N., Bamshad, M., et al. (2010) · Science · doi:10.1126/science.1186802 · Cited by 1,084
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759 · cited 1×
“This limitation promotes the use of the whole sequencing method to identify disease genes [26,37].”
MethodExome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
Musunuru, K., Pirruccello, J. P., Do, R., Peloso, G. M., Guiducci, C., Sougnez, C., Garimella, K. V., Fisher, S., Abreu, J., Barry, A. J., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1002926 · Cited by 754
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., et al. (2010) · Nature · doi:10.1038/nature09327 · Cited by 503
Cited by
IMI – Report on Experimental Models of Emmetropization and Myopia
Troilo, D., Smith, E. L., Nickla, D. L., Ashby, R., Tkatchenko, A. V., Ostrin, L. A., Gawne, T. J., Pardue, M. T., Summers, J. A., Kee, C.-S., et al. (2019) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.18-25967 · Cited by 487
Human Genome Sequencing in Health and Disease
Gonzaga-Jauregui, C., Lupski, J. R., & Gibbs, R. A. (2012) · Annual Review of Medicine · doi:10.1146/annurev-med-051010-162644 · Cited by 473
The CREAM Consortium, Tedja, M. S., 23andMe Research Team, UK Biobank Eye and Vision Consortium, Wojciechowski, R., Hysi, P. G., Eriksson, N., Furlotte, N. A., Verhoeven, V. J. M., Iglesias, A. I., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0127-7 · Cited by 355
Self-citationTedja, M. S., Haarman, A. E. G., Meester-Smoor, M. A., Kaprio, J., Mackey, D. A., Guggenheim, J. A., Hammond, C. J., Verhoeven, V. J. M., Klaver, C. C. W., & for the CREAM Consortium (2019) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.18-25965 · Cited by 304
Mossink, B., Negwer, M., Schubert, D., & Nadif Kasri, N. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03714-5 · Cited by 114
Metadata
- Authors
- Shi, Y., Li, Y., Zhang, D., Zhang, H., Li, Y., Lu, F., Liu, X., He, F., Gong, B., Cai, L., Li, R., Liao, S., Ma, S., Lin, H., Cheng, J., Zheng, H., Shan, Y., Chen, B., Hu, J., Jin, X., Zhao, P., Chen, Y., Zhang, Y., Lin, Y., Li, X., Fan, Y., Yang, H., Wang, J., & Yang, Z.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2011-06-09
- Volume
- 7
- Issue
- 6
- Pages
- e1002084
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2067773036
- Cited by
- 195
- References
- 7
- FWCI
- 13.83
- Type
- journal article
- Language
- en
- Open access
- gold
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- Shi, Y., Li, Y., Zhang, D., Zhang, H., Li, Y., Lu, F., Liu, X., He, F., Gong, B., Cai, L., Li, R., Liao, S., Ma, S., Lin, H., Cheng, J., Zheng, H., Shan, Y., Chen, B., Hu, J., . . . Yang, Z. (2011). Exome Sequencing Identifies ZNF644 Mutations in High Myopia. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1002084
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