PURPOSE: Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset. To date, eleven genes have been reported to cause the non-syndromic LCA phenotype. The CEP290 gene has been shown to account for Joubert and Senior-Loken syndromes and to represent a frequent cause of non-syndromic LCA. The aim of the present study was to establish the prevalence of CEP290 c.2991_1655A>G in non-syndromic Spanish patients having LCA or early-onset retinitis pigmentosa (RP). METHODS: We used automated sequencing to examine 49 non-syndromic Spanish families with LCA and 126 Spanish families with early-onset RP for the CEP290 c.2991_1655A>G mutation. As a control, we recruited 50 unrelated Spanish healthy individuals. RESULTS: The frequencies of mutated alleles were 6% in LCA cases and 0% in early-onset RP and healthy individual controls. These results were compared to other populations. CONCLUSIONS: The CEP290 c.2991_1655A>G mutation frequency in Spanish non-syndromic LCA families is lower than that of other countries.
PURPOSE:Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset. To date, eleven genes have been reported to cause the non-syndromic LCA phenotype. The CEP290 gene has been shown to account for Joubert and Senior-Loken syndromes and to represent a frequent cause of non-syndromic LCA. The aim of the present study was to establish the prevalence of CEP290 c.2991_1655A>G in non-syndromic Spanish patients having LCA or early-onset retinitis pigmentosa (RP). METHODS: We used automated sequencing to examine 49 non-syndromic Spanish families with LCA and 126 Spanish families with early-onset RP for the CEP290 c.2991_1655A>G mutation. As a control, we recruited 50 unrelated Spanish healthy individuals. RESULTS: The frequencies of mutated alleles were 6% in LCA cases and 0% in early-onset RP and healthy individual controls. These results were compared to other populations. CONCLUSIONS: The CEP290 c.2991_1655A>G mutation frequency in Spanish non-syndromic LCA families is lower than that of other countries.
Authors: Alejandro Garanto; Daniel C Chung; Lonneke Duijkers; Julio C Corral-Serrano; Muriël Messchaert; Ru Xiao; Jean Bennett; Luk H Vandenberghe; Rob W J Collin Journal: Hum Mol Genet Date: 2016-04-22 Impact factor: 6.150
Authors: Guo-Xiang Ruan; Elizabeth Barry; Dan Yu; Michael Lukason; Seng H Cheng; Abraham Scaria Journal: Mol Ther Date: 2017-01-18 Impact factor: 11.454
Authors: Periasamy Sundaresan; P Vijayalakshmi; Stewart Thompson; Audrey C Ko; John H Fingert; Edwin M Stone Journal: Mol Vis Date: 2009-09-04 Impact factor: 2.367
Authors: Frauke Coppieters; Ingele Casteels; Françoise Meire; Sarah De Jaegere; Sally Hooghe; Nicole van Regemorter; Hilde Van Esch; Ausra Matuleviciene; Luis Nunes; Valérie Meersschaut; Sophie Walraedt; Lieve Standaert; Paul Coucke; Heidi Hoeben; Hester Y Kroes; Johan Vande Walle; Thomy de Ravel; Bart P Leroy; Elfride De Baere Journal: Hum Mutat Date: 2010-10 Impact factor: 4.878
Authors: Hui Wang; Xianfeng Chen; Lynn Dudinsky; Claire Patenia; Yiyun Chen; Yumei Li; Yue Wei; Emad B Abboud; Ali A Al-Rajhi; Richard Alan Lewis; James R Lupski; Graeme Mardon; Richard A Gibbs; Brian D Perkins; Rui Chen Journal: Mol Vis Date: 2011-12-30 Impact factor: 2.367
Authors: Lonneke Duijkers; L Ingeborgh van den Born; John Neidhardt; Nathalie M Bax; Laurence H M Pierrache; B Jeroen Klevering; Rob W J Collin; Alejandro Garanto Journal: Int J Mol Sci Date: 2018-03-07 Impact factor: 5.923
Authors: Gang Zou; Tao Zhang; Xuesen Cheng; Austin D Igelman; Jun Wang; Xinye Qian; Shangyi Fu; Keqing Wang; Robert K Koenekoop; Gerald A Fishman; Paul Yang; Yumei Li; Mark E Pennesi; Rui Chen Journal: Mol Vis Date: 2021-03-18 Impact factor: 2.367