134
Views
3
CrossRef citations to date
0
Altmetric
Letters to the Journal

Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family

, , , &

References

  • Fahim AT, Daiger SP, Weleber RG. Retinitis Pigmentosa Overview. In: Pagon RA, Adam MP, Ardinger HH, et al., editors, GeneReviews(R). Seattle (WA): University of Washington, Seattle.
  • Eisenberger T, Neuhaus C, Khan AO, et al. 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. Plos One 2013;8(11):e78496.
  • Glockle N, Kohl S, Mohr J, et al. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 2014;22(1):99–104.
  • Wang H, Den Hollander AI, Moayedi Y, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet 2009;84(3):380–387.
  • Zhang X, Liu H, Zhang Y, et al. A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis. J Mol Med 2003;81(6):380–387.
  • Eblimit A, Nguyen TM, Chen Y, et al. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet 2015;24(6):1584–1601.
  • Li L, Xiao X, Li S, et al. Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations. Mol Vis 2011;17;3326–3332.
  • Wang H, Wang X, Zou X, et al. Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci 2015;56(6):3642–3655.
  • Mackay DS, Ocaka LA, Borman AD, et al. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. Invest Ophthalmol Vis Sci 2011;52(6):3032–3038.
  • Stuck MW, Conley SM, Naash MI. PRPH2/RDS and ROM-1: historical context, current views and future considerations. Prog Retin Eye Res 2016;52:47–63.
  • Francis PJ, Schultz DW, Gregory AM, et al. Genetic and phenotypic heterogeneity in pattern dystrophy. Br J Ophthalmol 2005;89(9):1115–1119.
  • Duncan JL, Talcott KE, Ratnam K, et al. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene. Invest Ophthalmol Vis Sci 2011;52(3):1557–1566.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.