Night blindness, congenital stationary, type 2A ; CSNB2A

Disease ID:693
Name:Night blindness, congenital stationary, type 2A ; CSNB2A
Associated with:1 target
Synonyms
Congenital stationary night blindness
Database Links
Disease Ontology: DOID:0050534
OMIM: 300071
Orphanet: ORPHA215

Targets

Cav1.4
Role:  Decreased signaling from photoreceptors to secondary neurons
Drugs:  Not established
References:  2,8,18
Mutations:  Cav1.4 is associated with 106 mutation. Click here for details

Ligands

No ligand related data available for Night blindness, congenital stationary, type 2A ; CSNB2A

References

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1. Audo I, Bujakowska KM, Léveillard T, Mohand-Saïd S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M et al.. (2012) Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis, 7: 8. [PMID:22277662]

2. Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. (1998) Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat. Genet., 19 (3): 264-7. [PMID:9662400]

3. Bech-Hansen T, Naylor MJ. (1999) Retinal calcium channel (alpha)1f-subunit gene. Patent number: CA2299611 A1. Priority date: 02/06/1998. Publication date: 09/12/1999.

4. Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. (2013) Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology, 120 (10): 2072-81. [PMID:23714322]

5. Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. (2001) A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum. Genet., 108 (2): 91-7. [PMID:11281458]

6. Boycott KM, Pearce WG, Bech-Hansen NT. (2000) Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can. J. Ophthalmol., 35 (4): 204-13. [PMID:10900517]

7. Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I et al.. (2014) Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. Biochim. Biophys. Acta, 1838 (8): 2053-65. [PMID:24796500]

8. Chang B, Heckenlively JR, Bayley PR, Brecha NC, Davisson MT, Hawes NL, Hirano AA, Hurd RE, Ikeda A, Johnson BA, McCall MA, Morgans CW, Nusinowitz S, Peachey NS, Rice DS, Vessey KA, Gregg RG. (2006) The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis. Neurosci., 23 (1): 11-24. [PMID:16597347]

9. Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J et al.. (2013) A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. PLoS ONE, 8 (10): e76414. [PMID:24124559]

10. Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC et al.. (2005) A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc. Natl. Acad. Sci. U.S.A., 102 (21): 7553-8. [PMID:15897456]

11. Hoda JC, Zaghetto F, Koschak A, Striessnig J. (2005) Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. J. Neurosci., 25 (1): 252-9. [PMID:15634789]

12. Hoda JC, Zaghetto F, Singh A, Koschak A, Striessnig J. (2006) Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression. J. Neurochem., 96 (6): 1648-58. [PMID:16476079]

13. McRory JE, Hamid J, Doering CJ, Garcia E, Parker R, Hamming K, Chen L, Hildebrand M, Beedle AM, Feldcamp L, Zamponi GW, Snutch TP. (2004) The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution. J. Neurosci., 24 (7): 1707-18. [PMID:14973233]

14. Nakamura M, Ito S, Piao CH, Terasaki H, Miyake Y. (2003) Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. Arch. Ophthalmol., 121 (7): 1028-33. [PMID:12860808]

15. Nakamura M, Ito S, Terasaki H, Miyake Y. (2001) Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. Invest. Ophthalmol. Vis. Sci., 42 (7): 1610-6. [PMID:11381068]

16. Singh A, Hamedinger D, Hoda JC, Gebhart M, Koschak A, Romanin C, Striessnig J. (2006) C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels. Nat. Neurosci., 9 (9): 1108-16. [PMID:16921373]

17. Stockner T, Koschak A. (2013) What can naturally occurring mutations tell us about Ca(v)1.x channel function?. Biochim. Biophys. Acta, 1828 (7): 1598-607. [PMID:23219801]

18. Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat. Genet., 19 (3): 260-3. [PMID:9662399]

19. Wang Q, Gao Y, Li S, Guo X, Zhang Q. (2012) Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness. Int. J. Mol. Med., 30 (3): 521-6. [PMID:22735794]

20. Weleber RG. (2002) Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). Ophthalmic Genet., 23 (2): 71-97. [PMID:12187427]

21. Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM. (2002) Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur. J. Hum. Genet., 10 (8): 449-56. [PMID:12111638]

22. Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M et al.. (2009) Genotyping microarray for CSNB-associated genes. Invest. Ophthalmol. Vis. Sci., 50 (12): 5919-26. [PMID:19578023]

23. Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W. (2005) Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Mol. Vis., 11: 179-83. [PMID:15761389]

24. Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR et al.. (2003) Mutations in the CACNA1F and NYX genes in British CSNBX families. Hum. Mutat., 21 (2): 169. [PMID:12552565]