{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T03:56:35Z","timestamp":1784865395822,"version":"3.55.0"},"reference-count":20,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T00:00:00Z","timestamp":1660262400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Key R&amp;D Program of China","award":["2020YFC2008200"],"award-info":[{"award-number":["2020YFC2008200"]}]},{"name":"National Key R&amp;D Program of China","award":["2022A1515012102"],"award-info":[{"award-number":["2022A1515012102"]}]},{"name":"Guangdong Basic and Applied Basic Research Foundation","award":["2020YFC2008200"],"award-info":[{"award-number":["2020YFC2008200"]}]},{"name":"Guangdong Basic and Applied Basic Research Foundation","award":["2022A1515012102"],"award-info":[{"award-number":["2022A1515012102"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The deletion of chromosome 11p13 involving the WT1 and PAX6 genes has been shown to cause WAGR syndrome (OMIM #194072), a rare genetic disorder that features Wilms\u2019 tumor, aniridia, genitourinary anomalies, as well as mental retardation. In this study, we expand the genotypic and phenotypic spectrum of WAGR syndrome by reporting on six patients from six unrelated families with different de novo deletions located on chromosome 11p13. Very rare phenotypes of lens automated absorption and lens thinning were detected in four of the six patients. We assessed the involvement of the ARL14EP gene in patients with and without severe lens abnormalities and found that its deletion may worsen the lens abnormalities in these patients.<\/jats:p>","DOI":"10.3390\/genes13081431","type":"journal-article","created":{"date-parts":[[2022,8,15]],"date-time":"2022-08-15T01:47:21Z","timestamp":1660528041000},"page":"1431","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8544-1109","authenticated-orcid":false,"given":"Qiwei","family":"Wang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xulin","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingfeng","family":"Qin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongni","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoshan","family":"Lin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Zhu","sequence":"additional","affiliation":[{"name":"Aegicare, 3803 Building 11A, Shenzhen Bay Ecological Technology Park, Nanshan District, Shenzhen 518063, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3026-2469","authenticated-orcid":false,"given":"Haowen","family":"Tan","sequence":"additional","affiliation":[{"name":"Aegicare, 3803 Building 11A, Shenzhen Bay Ecological Technology Park, Nanshan District, Shenzhen 518063, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanqin","family":"Zhao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0680-5187","authenticated-orcid":false,"given":"Zhuoling","family":"Lin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4672-9721","authenticated-orcid":false,"given":"Haotian","family":"Lin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3023-4057","authenticated-orcid":false,"given":"Weirong","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,8,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3323","DOI":"10.1093\/hmg\/ddz168","article-title":"LMO2 gene deletions significantly worsen the prognosis of Wilms\u2019 tumor development in patients with WAGR syndrome","volume":"28","author":"Marakhonov","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1007\/BF00278949","article-title":"Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13","volume":"57","author":"Turleau","year":"1981","journal-title":"Hum. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.gene.2012.11.073","article-title":"The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome","volume":"516","author":"Perez","year":"2013","journal-title":"Gene"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1056\/NEJMoa0801119","article-title":"Brain-derived neurotrophic factor and obesity in the WAGR syndrome","volume":"359","author":"Han","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1159\/000172086","article-title":"Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism","volume":"122","author":"Xu","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Vasilyeva, T.A., Marakhonov, A.V., Minzhenkova, M.E., Markova, Z.G., Petrova, N.V., Sukhanova, N.V., Koshkin, P.A., Pyankov, D.V., Kanivets, I.V., and Korostelev, S.A. (2020). A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977?kb deletion in the 11p13 region. BMC Med. Genom., 13.","DOI":"10.1186\/s12920-020-00790-1"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2700","DOI":"10.1016\/j.cortex.2013.02.009","article-title":"Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR\/11p13 deletion syndrome","volume":"49","author":"Han","year":"2013","journal-title":"Cortex"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1002\/cncr.33304","article-title":"Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and\/or nephrobla stomatosis: The 30-year SIOP-RTSG experience","volume":"127","author":"Hol","year":"2021","journal-title":"Cancer"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1542\/peds.2004-0467","article-title":"WAGR syndrome: A clinical review of 54 cases","volume":"116","author":"Fischbach","year":"2005","journal-title":"Pediatrics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1064","DOI":"10.1126\/science.349.6252.1064-b","article-title":"Documenting rare disease data in China","volume":"349","author":"Lin","year":"2015","journal-title":"Science"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"713284","DOI":"10.3389\/fmed.2021.713284","article-title":"Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families","volume":"8","author":"Wang","year":"2021","journal-title":"Front. Med."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Talevich, E., Shain, A.H., Botton, T., and Bastian, B.C. (2016). CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing. PLoS Comput. Biol., 12.","DOI":"10.1371\/journal.pcbi.1004873"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3572","DOI":"10.1093\/bioinformatics\/bty304","article-title":"AnnotSV: An integrated tool for structural variations annotation","volume":"34","author":"Geoffroy","year":"2018","journal-title":"Bioinformatics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"4112","DOI":"10.1038\/s41467-019-12013-y","article-title":"In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf 46\/Arl14ep risk gene","volume":"10","author":"Peter","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"eaat6224","DOI":"10.1126\/sciadv.aat6224","article-title":"Regulated nuclear accumulation of a histone methyltransferase times the onset of heterochromatin form ation in C. elegans embryos","volume":"4","author":"Mutlu","year":"2018","journal-title":"Sci. Adv."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/ng1192-232","article-title":"Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene","volume":"2","author":"Glaser","year":"1992","journal-title":"Nat. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/j.ajhg.2013.10.028","article-title":"Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia","volume":"93","author":"Bhatia","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1038\/ng0894-463","article-title":"PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects","volume":"7","author":"Glaser","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Royer-Bertrand, B., Cisarova, K., Niel-Butschi, F., Mittaz-Crettol, L., Fodstad, H., and Superti-Furga, A. (2021). CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunit ies and Limitations. Genes, 12.","DOI":"10.3390\/genes12091427"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Zhao, L., Liu, H., Yuan, X., Gao, K., and Duan, J. (2020). Comparative study of whole exome sequencing-based copy number variation detection tools. BMC Bioinform., 21.","DOI":"10.1186\/s12859-020-3421-1"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/8\/1431\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:07:37Z","timestamp":1760141257000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/8\/1431"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,12]]},"references-count":20,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2022,8]]}},"alternative-id":["genes13081431"],"URL":"https:\/\/doi.org\/10.3390\/genes13081431","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,12]]}}}