271
Views
2
CrossRef citations to date
0
Altmetric
Research Reports

Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness

, , , &
Pages 206-210 | Received 09 Nov 2014, Accepted 13 May 2016, Published online: 18 Jul 2016

References

  • Zeitz C. Molecular genetics and protein function involved in nocturnal vision. Expert Rev Ophthalmol 2007;2:467–485.
  • Hope CI, Sharp DM, Hemara-Wahanui A, et al. Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. Clin Exp Ophthalmol 2005;33:129–136.
  • Schubert G, Bornschein H. Analysis of the human electroretinogram. Ophthalmologica 1952;123:396–413.
  • Riggs LA. Electroretinography in cases of night blindness. Am J Ophthalmol 1954;38:70–78.
  • Miyake Y, Yagasaki K, Horiguchi M, et al. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol 1986;104:1013–1020.
  • Miyake Y. Establishment of the concept of new clinical entities – complete and incomplete form of congenital stationary night blindness. Nihon Ganka Gakkai Zasshi 2002;106:737–755; discussion 756.
  • Miyake Y, Horiguchi M, Terasaki H, et al. Scotopic threshold response in complete and incomplete types of congenital stationary night blindness. Invest Ophthalmol Vis Sci 1994;35:3770–3775.
  • Kamiyama M, Yamamoto S, Nitta K, et al. Undetectable S cone electroretinogram b-wave in complete congenital stationary night blindness. Br J Ophthalmol 1996;80:637–639.
  • Audo I, Robson AG, Holder GE, et al. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol. 2008;53:16–40.
  • Zeitz C, Kloeckener-Gruissem B, Forster U, et al. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet 2006;79:657–667.
  • Audo I, Bujakowska K, Orhan E, et al. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2012;90:321–330.
  • Peachey NS, Ray TA, Florijn R, et al. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2012;90:331–339.
  • Dryja TP, McGee TL, Berson EL, et al. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A 2005;102:4884–4889.
  • Zeitz C, Jacobson SG, Hamel CP, et al. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2013;92:67–75.
  • Li Z, Sergouniotis PI, Michaelides M, et al. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet 2009;85:711–719.
  • Audo I, Kohl S, Leroy BP, et al. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2009;85:720–729.
  • van Genderen MM, Bijveld MM, Claassen YB, et al. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet 2009;85:730–736.
  • Strom TM, Nyakatura G, Apfelstedt-Sylla E, et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet 1998;19:260–263.
  • Pusch CM, Zeitz C, Brandau O, et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet 2000;26:324–327.
  • Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet 2000;26:319–323.
  • Kim SD, Liu JL, Roscioli T, et al. Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1. FEBS Lett 2012;586:1516–1521.
  • Catalani E, Tomassini S, Dal Monte M, et al. Localization patterns of fibroblast growth factor 1 and its receptors FGFR1 and FGFR2 in postnatal mouse retina. Cell Tissue Res 2009;336:423–438.
  • Neuille M, Morgans CW, Cao Y, et al. LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation. Eur J Neurosci 2015;42:1966–1975.
  • Littink KW, van Genderen MM, Collin RW, et al. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci 2009;50:2344–2350.
  • Aldahmesh MA, Al-Owain M, Alqahtani F, et al. A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype. Mol Vis. 2010;16:207–212.
  • Lee A, Westenbroek RE, Haeseleer F, et al. Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1. Nat Neurosci 2002;5:210–217.
  • Haeseleer F, Imanishi Y, Maeda T, et al. Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. Nat Neurosci 2004;7:1079–1087.
  • Wang Q, Wang P, Li S, et al. Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia. Mol Vis 2010;16:303–309.
  • Marmor MF, Fulton AB, Holder GE, et al. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 2009;118:69–77.
  • Li L, Xiao X, Li S, et al. Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One 2011;6:e19458.
  • Kozak M. Pushing the limits of the scanning mechanism for initiation of translation. Gene 2002;299:1–34.
  • Hong M, Yoon SI, Wilson IA. Structure and functional characterization of the RNA-binding element of the NLRX1 innate immune modulator. Immunity 2012;36:337–347.
  • Abramowicz MJ, Ribai P, Cordonnier M. Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis. Am J Med Genet A 2005;132A:76–79.

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.