Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

Daich Varela, M. et al. Ophthalmic genetics in South America. Am. J. Med Genet. C. Semin Med Genet. 184, 753–761 (2020).

Article  PubMed  Google Scholar 

Homburger, J. R. et al. Genomic insights into the ancestry and demographic history of South America. PLoS Genet. 11, e1005602 (2015).

Article  PubMed  PubMed Central  Google Scholar 

Avena, S. et al. Heterogeneity in genetic admixture across different regions of Argentina. PLoS ONE 7, e34695 (2012).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Muzzio, M. et al. Population structure in Argentina. PLoS ONE 13, e0196325 (2018).

Article  PubMed  PubMed Central  Google Scholar 

Durmaz, A. A. et al. Evolution of genetic techniques: past, present, and beyond. Biomed. Res. Int. 2015, 461524 (2015).

Article  PubMed  PubMed Central  Google Scholar 

Hall, M. & Olopade, O. I. Confronting genetic testing disparities knowledge is power. J. Am. Med. Assoc. 293, 1783–1785 (2005).

Article  CAS  Google Scholar 

Reich, D. et al. Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. PLoS Genet. 5, e1000360 (2009).

Article  PubMed  PubMed Central  Google Scholar 

Green, R. E. et al. A draft sequence of the Neandertal genome. Science 328, 710–722 (2010).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sherman, R. M. & Salzberg, S. L. Pan-genomics in the human genome era. Nat. Rev. Genet. 21, 243–254 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lek, M. & Mardis, E. R. Envisioning the next human genome reference. Dis. Model Mech. 14, dmm049426 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Soewito S. et al. Abstract P2-09-06: Increased rates of genetic variants of unknown significance in Latino and African American populations of south Texas. Cancer Res. 82(4_Supplement), P2-09-06-P2-09-06 (2022).

Opatt, D. M., Morrow, M. & Daly, M. The incidence of BRCA1 and BRCA2 variants of unknown significance varies in different ethnic populations. J. Clin. Oncol. 24, 10002 (2006).

Article  Google Scholar 

Chern, J. Y., Lee, S. S., Frey, M. K., Lee, J. & Blank, S. V. The influence of BRCA variants of unknown significance on cancer risk management decision-making. jgo 30, 0 (2019).

Google Scholar 

Varela, M. D., de Guimaraes, T. A. C., Georgiou, M. & Michaelides, M. Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials. Br. J. Ophthalmol. 106, 445–451 (2022).

Varela, M. D., Georgiadis, T. & Michaelides, M. Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes. Br. J. Ophthalmol. https://doi.org/10.1136/bjo-2022-321903 (2022).

Bouzidi, A. et al. Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies. Orphanet J. Rare Dis. 17, 197 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Sallum, J. M. F. et al. Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. Am. J. Med Genet. C. Semin Med Genet. 184, 728–752 (2020).

Article  CAS  PubMed  Google Scholar 

Villanueva, A. et al. Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. Ophthalmic Genet. 39, 73–79 (2018).

Article  CAS  PubMed  Google Scholar 

Pandova, M. G. et al. Inherited retinal dystrophies in a Kuwaiti tribe. Ophthalmic Genet. 43, 438–445 (2022).

Article  CAS  PubMed  Google Scholar 

Luisi, P. et al. Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina. PLoS ONE 15, e0233808 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pérez-Stable, E. J., Alvidrez, J. & Hill, C. V. Definitions, principles, and concepts for minority health and health disparities research. Sci. Health Disparities Res. 1–12 https://doi.org/10.1002/9781119374855.ch1 (2021).

Elam, A. R. et al. Disparities in vision health and eye care. Ophthalmology 129, e89-e113 (2022).

Suther, S. & Kiros, G. E. Barriers to the use of genetic testing: a study of racial and ethnic disparities. Genet. Med J. Am. Coll. Med. Genet. 11, 655–662 (2009).

Google Scholar 

Sheck, L. H. N. et al. Panel-based genetic testing for inherited retinal disease screening 176 genes. Mol. Genet Genom. Med. 9, e1663 (2021).

CAS  Google Scholar 

Perea-Romero, I. et al. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Sci. Rep. 11, 1526 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tracewska, A. M. et al. Non-syndromic inherited retinal diseases in Poland: genes, mutations, and phenotypes. Mol. Vis. 27, 457–465 (2021).

CAS  PubMed  PubMed Central  Google Scholar 

Ma, D. J. et al. Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC Med. Genom. 14, 74 (2021).

Article  CAS  Google Scholar 

Huang, X. F. et al. Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. Genet Med. 17, 271–278 (2015).

Article  CAS  PubMed  Google Scholar 

Goetz, K. E. et al. Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network. Am. J. Med. Genet. C. Semin Med. Genet. 184, 828–837 (2020).

Article  PubMed  PubMed Central  Google Scholar 

Stone, E. M. et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology 124, 1314–1331 (2017).

Article  PubMed  Google Scholar 

Chen, T. C. et al. Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan. NPJ Genom. Med. 6, 16 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pontikos, N. et al. Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom. Ophthalmology 127, 1384–1394 (2020).

Article  PubMed  Google Scholar 

Yeung, K. Y. et al. Molecular diagnostics for retinitis pigmentosa. Clin. Chim. Acta 313, 209–215 (2001).

Article  CAS  PubMed  Google Scholar 

Tuson, M., Marfany, G. & Gonzàlez-Duarte, R. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). Am. J. Hum. Genet. 74, 128–138 (2004).

Article  CAS  PubMed  Google Scholar 

McGee, T. L., Seyedahmadi, B. J., Sweeney, M. O., Dryja, T. P. & Berson, E. L. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J. Med Genet. 47, 499–506 (2010).

Article  CAS  PubMed  Google Scholar 

Rivolta, C., Sweklo, E. A., Berson, E. L. & Dryja, T. P. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 66, 1975–1978 (2000).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yang, L. et al. Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation. PLoS ONE 9, e85752 (2014).

Article  PubMed  PubMed Central  Google Scholar 

Tarpey, P. et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat. Genet. 38, 1242–1244 (2006).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rajabian, F. et al. Combined optic atrophy and rod–cone dystrophy expands the RTN4IP1 (Optic Atrophy 10) phenotype. J. Neuro-Ophthalmol. 41, e290-e292 (2021).

Arno, G. et al. Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration. Am. J. Hum. Genet. 100, 334–342 (2017).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tanackovic, G. et al. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am. J. Hum. Genet. 88, 643–649 (2011).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Velde, H. M. et al. Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. Hum. Genet. 141, 1723–1738 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Aguirre-Lamban, J. et al. Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors. Invest Ophthalmol. Vis. Sci. 52, 6206–6212 (2011).

Article  CAS  PubMed  Google Scholar 

留言 (0)

沒有登入
gif