| The authors report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy. | Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.
Chen X, Sheng X, Sun X, Zhang Y, Jiang C, Li H, Ding S, Liu Y, Liu W, Li Z, Zhao C., Free PMC Article | 03/4/2017 |
| Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa. | Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK, [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B., Free PMC Article | 07/5/2014 |
| This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations. | Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FPM, Carracedo A, Ayuso C. | 03/15/2014 |
| A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts. | Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ., Free PMC Article | 12/10/2011 |
| Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions | Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Swider M, Herrera W, Stone EM., Free PMC Article | 01/21/2010 |
| OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin | OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP., Free PMC Article | 01/21/2010 |
| This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans | LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.
Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, Park SS, Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, Park SS. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.
Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, Park SS, Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, Park SS. | 02/11/2009 |
| This is the second report of LCA5 mutations causing Leber congenital amaurosis. | Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.
Ramprasad VL, Soumittra N, Nancarrow D, Sen P, McKibbin M, Williams GA, Arokiasamy T, Lakshmipathy P, Inglehearn CF, Kumaramanickavel G., Free PMC Article | 01/21/2010 |
| Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%). | Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
Gerber S, Hanein S, Perrault I, Delphin N, Aboussair N, Leowski C, Dufier JL, Roche O, Munnich A, Kaplan J, Rozet JM. | 01/21/2010 |
| The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5. | Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. | 01/21/2010 |
| Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma. | Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.
Ozgül RK, Bozkurt B, Kiratli H, Oğüş A. | 01/21/2010 |