Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort

Aguirre-Lamban, 2009, Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants, British J. Ophthalmol., 93, 614, 10.1136/bjo.2008.145193 Allikmets, 1997, A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy, Nat. Genet., 15, 236, 10.1038/ng0397-236 Bauwens, 2019, ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. Genetics in medicine, Off. J. Am. Coll. Med. Genet., 21, 1761 Burke, 2012, Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene, Invest. Ophthalmol.; Vis. Sci., 53, 4458, 10.1167/iovs.11-9166 Cornelis, 2017, Silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 retinal dystrophy cases, Hum. Mutat., 38, 400, 10.1002/humu.23165 Cremers, 1998, Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR, Hum. Mol. Genet., 7, 355, 10.1093/hmg/7.3.355 Cremers, 2020, Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations, Prog. Retin. Eye Res., 10.1016/j.preteyeres.2020.100861 De Laey, 1995, Hyperlipofuscinosis and subretinal fibrosis in Stargardt's disease, Retina (Philadelphia, Pa.), 15, 399, 10.1097/00006982-199515050-00005 Di Iorio, 2019, Association between genotype And disease progression IN Italian STARGARDT patients: a retrospective natural history study, Retina (Philadelphia, Pa.), 39, 1399, 10.1097/IAE.0000000000002151 Fakin, 2016, Phenotype and progression of retinal degeneration associated with nullizigosity of ABCA4, Invest. Ophthalmol.; Vis. Sci., 57, 4668, 10.1167/iovs.16-19829 Fujinami, 2013, The clinical effect of homozygous ABCA4 alleles in 18 patients, Ophthalmology, 120, 2324, 10.1016/j.ophtha.2013.04.016 Fujinami, 2013, Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function, Am. J. Ophthalmol., 156, 487, 10.1016/j.ajo.2013.05.003 Fujinami, 2019, Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8, British J. Ophthalmol., 103, 390, 10.1136/bjophthalmol-2018-312064 Fujinami, 2015, Clinical and molecular characteristics of childhood-onset Stargardt disease, Ophthalmology, 122, 326, 10.1016/j.ophtha.2014.08.012 Fujinami, 2013, ABCA4 gene screening by next-generation sequencing in a British cohort, Invest. Ophthalmol.; Vis. Sci., 54, 6662, 10.1167/iovs.13-12570 Grandinetti, 2011, Subretinal fibrosis in Stargardt's disease: case report, Arq. Bras. Oftalmol., 74, 449, 10.1590/S0004-27492011000600015 Grover, 1999, Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older, Ophthalmology, 106, 1780, 10.1016/S0161-6420(99)90342-1 Han, 2020 Hu, 2019, ABCA4 gene screening in a Chinese cohort with Stargardt disease: identification of 37 novel variants, Front. Genet., 10, 773, 10.3389/fgene.2019.00773 Jiang, 2016, Screening of ABCA4 gene in a Chinese cohort with Stargardt disease or cone-rod dystrophy with a report on 85 novel mutations, Invest. Ophthalmol.; Vis. Sci., 57, 145, 10.1167/iovs.15-18190 Khan, 2019, Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease, Hum. Mutat., 40, 1749, 10.1002/humu.23787 Khan, 2020, Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics, Genet. Med. : Off. J. Am. Coll. Med. Genet., 22, 1235, 10.1038/s41436-020-0787-4 Kim, 2006, Comparison of visual acuity loss in patients with different stages of Stargardt's disease, Ophthalmology, 113, 1748, 10.1016/j.ophtha.2006.04.027 Kong, 2018, vol. 136, 920 Lange, 2009, Resolving the clinical acuity categories "hand motion" and "counting fingers" using the Freiburg Visual Acuity Test (FrACT), Graefe's Arch. Clin. Exper. Ophthalmol. = Albrecht von Graefes Archiv klinische experimentelle Ophthalmologie, 247, 137, 10.1007/s00417-008-0926-0 Lee, 2017, Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent, Eur. J. Hum. Genet., 25, 735, 10.1038/ejhg.2017.13 Lewis, 1999, Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease, Am. J. Hum. Genet., 64, 422, 10.1086/302251 Lois, 2001, Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Archives of ophthalmology, Chicago, Ill. 1960, 119, 359 Martinez-Mir, 1998, Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR, Nat. Genet., 18, 11, 10.1038/ng0198-11 Maugeri, 2000, Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy, Am. J. Hum. Genet., 67, 960, 10.1086/303079 Maugeri, 1999, The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease, Am. J. Hum. Genet., 64, 1024, 10.1086/302323 Miraldi Utz, 2014, Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease, British J. Ophthalmol., 98, 513, 10.1136/bjophthalmol-2013-304270 Oh, 2004, Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus, Retina (Philadelphia, Pa.), 24, 920, 10.1097/00006982-200412000-00013 Rivera, 2000, A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration, Am. J. Hum. Genet., 67, 800, 10.1086/303090 Rossi, 2012, Subretinal fibrosis in stargardt's disease with fundus flavimaculatus and ABCA4 gene mutation, Case Rep. Ophthalmol., 3, 410, 10.1159/000345415 Ryan, 2013 Schindler, 2010, Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population, Hum. Mol. Genet., 19, 3693, 10.1093/hmg/ddq284 Sciezynska, 2016, Next-generation sequencing of ABCA4: high frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe, Exp. Eye Res., 145, 93, 10.1016/j.exer.2015.11.011 Simonelli, 2005, Genotype-phenotype correlation in Italian families with Stargardt disease, Ophthalmic Res., 37, 159, 10.1159/000086073 Tanaka, 2018, The rapid-onset chorioretinopathy phenotype of ABCA4 disease, Ophthalmology, 125, 89, 10.1016/j.ophtha.2017.07.019 Tanna, 2017, Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options, British J. Ophthalmol., 101, 25, 10.1136/bjophthalmol-2016-308823 Tsybovsky, 2010, The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease, Adv. Exp. Med. Biol., 703, 105, 10.1007/978-1-4419-5635-4_8 Wang, 2015, Comprehensive molecular diagnosis of a large Chinese leber congenital amaurosis cohort, Invest. Ophthalmol.; Vis. Sci., 56, 3642, 10.1167/iovs.14-15972 Xu, 2016, Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa, Hum. Mol. Genet., 25, 1479, 10.1093/hmg/ddw022 Zahid, 2013, Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease, Am. J. Ophthalmol., 155, 465, 10.1016/j.ajo.2012.09.011 Zaneveld, 2015, Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genetics in medicine, Off. J. Am. Coll. Med. Genet., 17, 262 Zernant, 2014, Genetic and clinical analysis of ABCA4-associated disease in African American patients, Hum. Mutat., 35, 1187, 10.1002/humu.22626 Zernant, 2017, Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration, J. Med. Genet., 54, 404, 10.1136/jmedgenet-2017-104540 Zernant, 2014, Analysis of the ABCA4 genomic locus in Stargardt disease, Hum. Mol. Genet., 23, 6797, 10.1093/hmg/ddu396 Zhang, 2015, Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations, Hum. Mol. Genet., 24, 3220, 10.1093/hmg/ddv073 Zhu, 2020, USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa, British J. Ophthalmol.