@article {931031,
	title = {Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations},
	journal = {Genet Med},
	volume = {19},
	number = {6},
	year = {2017},
	month = {2017 Jun},
	pages = {643-651},
	abstract = {PURPOSE: Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60\% of inherited retinal degeneration (IRD) cases. This can be partially attributed to elusive mutations in the known IRD genes, which are not easily identified by the targeted next-generation sequencing (NGS) or Sanger sequencing approaches. We hypothesized that copy-number variations (CNVs) are a major contributor to the elusive genetic causality of IRDs. METHODS: Twenty-eight cases previously unsolved with a targeted NGS were investigated with whole-genome single-nucleotide polymorphism (SNP) and comparative genomic hybridization (CGH) arrays. RESULTS: Deletions in the IRD genes were detected in 5 of 28 families, including a de novo deletion. We suggest that the de novo deletion occurred through nonallelic homologous recombination (NAHR) and we constructed a genomic map of NAHR-prone regions with overlapping IRD genes. In this article, we also report an unusual case of recessive retinitis pigmentosa due to compound heterozygous mutations in SNRNP200, a gene that is typically associated with the dominant form of this disease. CONCLUSIONS: CNV mapping substantially increased the genetic diagnostic rate of IRDs, detecting genetic causality in 18\% of previously unsolved cases. Extending the search to other structural variations will probably demonstrate an even higher contribution to genetic causality of IRDs.Genet Med advance online publication 13 October 2016.},
	issn = {1530-0366},
	doi = {10.1038/gim.2016.158},
	author = {Bujakowska, Kinga M and Fernandez-Godino, Rosario and Place, Emily and Consugar, Mark and Navarro-Gomez, Daniel and White, Joseph and Bedoukian, Emma C and Zhu, Xiaosong and Xie, Hongbo M and Gai, Xiaowu and Leroy, Bart P and Pierce, Eric A}
}
