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Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium; Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I. Zeitz C, et al. Am J Hum Genet. 2013 Jan 10;92(1):67-75. doi: 10.1016/j.ajhg.2012.10.023. Epub 2012 Dec 13. Am J Hum Genet. 2013. PMID: 23246293 Free PMC article.
Subsequent Sanger sequencing of 89 individuals with CSNB identified another cCSNB case harboring a nonsense mutation (c.1151C>G [p.Ser384()]) and a deletion predicted to lead to a premature stop codon (c.1538_1539del [p.Ser513Cysfs()59]) in the same gene. ...
Subsequent Sanger sequencing of 89 individuals with CSNB identified another cCSNB case harboring a nonsense mutation (c.1151C>G [p.Ser384 …
NYX mutations in four families with high myopia with or without CSNB1.
Zhou L, Li T, Song X, Li Y, Li H, Dan H. Zhou L, et al. Mol Vis. 2015 Mar 5;21:213-23. eCollection 2015. Mol Vis. 2015. PMID: 25802485 Free PMC article.
The effect of each variation on the nyctalopin protein was predicted using online tools. RESULTS: Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. ...
The effect of each variation on the nyctalopin protein was predicted using online tools. RESULTS: Four potential pathogenic variation …
A common NYX mutation in Flemish patients with X linked CSNB.
Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C. Leroy BP, et al. Br J Ophthalmol. 2009 May;93(5):692-6. doi: 10.1136/bjo.2008.143727. Epub 2008 Jul 10. Br J Ophthalmol. 2009. PMID: 18617546 Free article.
AIMS: The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetically heterogeneous retinal disorder. It is characterised by a non-progressive disease course, often associated with high myopia and nystagmus. So far, mutations in two g …
AIMS: The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetically heterogeneous retinal disorder. …
A novel missense mutation in the NYX gene associated with high myopia.
Yip SP, Li CC, Yiu WC, Hung WH, Lam WW, Lai MC, Ng PW, Fung WY, Chu PH, Jiang B, Chan HH, Yap MK. Yip SP, et al. Ophthalmic Physiol Opt. 2013 May;33(3):346-53. doi: 10.1111/opo.12036. Epub 2013 Feb 14. Ophthalmic Physiol Opt. 2013. PMID: 23406521
Neither was this variant found in any of the 529 male and 567 female subjects of various ethnic backgrounds whose genome sequences are documented in the 1000 Genomes Project database. The mutation was predicted to affect the protein function. From ocular electrophysiologic …
Neither was this variant found in any of the 529 male and 567 female subjects of various ethnic backgrounds whose genome sequences are docum …