{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:01:18Z","timestamp":1768867278025,"version":"3.49.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100008696","name":"University of the Punjab","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008696","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2026,12]]},"DOI":"10.1007\/s11033-025-11427-w","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T11:32:34Z","timestamp":1768822354000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family"],"prefix":"10.1007","volume":"53","author":[{"given":"Neelam","family":"Saba","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ambreen","family":"Kanwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saba","family":"Irshad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,1,19]]},"reference":[{"key":"11427_CR1","doi-asserted-by":"publisher","first-page":"107","DOI":"10.4274\/tjo.galenos.2020.08377","volume":"51","author":"HT \u015eekero\u011flu","year":"2021","unstructured":"\u015eekero\u011flu HT, Utine GE (2021) Congenital cataract and its genetics: the era of next-generation sequencing. Turk J Ophthalmol 51:107","journal-title":"Turk J Ophthalmol"},{"key":"11427_CR2","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1038\/eye.2016.156","volume":"30","author":"S Sheeladevi","year":"2016","unstructured":"Sheeladevi S, Lawrenson J, Fielder A, Suttle C (2016) Global prevalence of childhood cataract: a systematic review. Eye 30:1160\u20131169","journal-title":"Eye"},{"key":"11427_CR3","volume-title":"Investing in health","author":"B Mundial","year":"1993","unstructured":"Mundial B (1993) Investing in health. World Bank"},{"key":"11427_CR4","doi-asserted-by":"publisher","first-page":"148","DOI":"10.4103\/joco.joco_339_21","volume":"34","author":"MA Tariq","year":"2022","unstructured":"Tariq MA, Uddin QS, Ahmed B, Sheikh S, Ali U, Mohiuddin A (2022) Prevalence of pediatric cataract in asia: a systematic review and meta-analysis. J Curr Ophthalmol 34:148\u2013159","journal-title":"J Curr Ophthalmol"},{"key":"11427_CR5","doi-asserted-by":"crossref","unstructured":"Pichi F, Carrai P and Lowder C (2016) Uveitis associated with juvenile idiopathic arthritis. practical management of pediatric ocular disorders and strabismus: a case-based approach 213\u2013221","DOI":"10.1007\/978-1-4939-2745-6_22"},{"key":"11427_CR6","doi-asserted-by":"publisher","DOI":"10.3390\/genes12020131","volume":"12","author":"S Bell","year":"2021","unstructured":"Bell S, Malka S, Lloyd IC, Moosajee M (2021) Clinical spectrum and genetic diagnosis of 54 consecutive patients aged 0\u201325 with bilateral cataracts. Genes 12:131","journal-title":"Genes"},{"key":"11427_CR7","first-page":"2007","volume":"16","author":"A Shiels","year":"2010","unstructured":"Shiels A, Bennett TM, Hejtmancik JF (2010) Cat-Map: putting cataract on the map. Mol Vis 16:2007","journal-title":"Mol Vis"},{"key":"11427_CR8","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1007\/s00439-018-1875-2","volume":"138","author":"F Ceroni","year":"2019","unstructured":"Ceroni F, Aguilera-Garcia D, Chassaing N et al (2019) New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. Hum Genet 138:1027\u20131042","journal-title":"Hum Genet"},{"key":"11427_CR9","volume":"1","author":"SJ Bell","year":"2020","unstructured":"Bell SJ, Oluonye N, Harding P, Moosajee M (2020) Congenital cataract: a guide to genetic and clinical management. Ther Adv Rare Dis 1:2633004020938061","journal-title":"Ther Adv Rare Dis"},{"key":"11427_CR10","doi-asserted-by":"publisher","DOI":"10.3390\/jcm14134737","volume":"14","author":"B Cosar","year":"2025","unstructured":"Cosar B, Nefesoglu MS, Altinoz MA et al (2025) Lens proteomics provide novel clues for cataractogenesis: original investigation and a broad literature survey. J Clin Med 14:4737","journal-title":"J Clin Med"},{"key":"11427_CR11","doi-asserted-by":"crossref","unstructured":"Hejtmancik JF (2008) Congenital cataracts and their molecular genetics.","DOI":"10.1016\/j.semcdb.2007.10.003"},{"key":"11427_CR12","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.exer.2016.06.011","volume":"156","author":"A Shiels","year":"2017","unstructured":"Shiels A, Hejtmancik JF (2017) Mutations and mechanisms in congenital and age-related cataracts. Exp Eye Res 156:95\u2013102","journal-title":"Exp Eye Res"},{"key":"11427_CR13","unstructured":"Helms C (1990) Salting out procedure for human DNA extraction. The donis-keller lab-lab manual homepage"},{"key":"11427_CR14","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1038\/gim.2017.113","volume":"20","author":"M Ansar","year":"2018","unstructured":"Ansar M, Riazuddin S, Sarwar MT et al (2018) Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. Genet Med 20:778\u2013784","journal-title":"Genet Med"},{"key":"11427_CR15","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1007\/s00439-006-0319-6","volume":"121","author":"RD Ramachandran","year":"2007","unstructured":"Ramachandran RD, Perumalsamy V, Hejtmancik JF (2007) Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 121:475\u2013482","journal-title":"Hum Genet"},{"key":"11427_CR16","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/j.yexcr.2004.04.020","volume":"298","author":"L Gu","year":"2004","unstructured":"Gu L, Troncoso JC, Wade JB, Monteiro MJ (2004) In vitro assembly properties of mutant and chimeric intermediate filament proteins: insight into the function of sequences in the rod and end domains of IF. Exp Cell Res 298:249\u2013261","journal-title":"Exp Cell Res"},{"key":"11427_CR17","first-page":"2590","volume":"19","author":"H Wang","year":"2013","unstructured":"Wang H, Zhang T, Wu D, Zhang J (2013) A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. Mol Vis 19:2590","journal-title":"Mol Vis"},{"key":"11427_CR18","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-01182-9","volume":"7","author":"Y Zhai","year":"2017","unstructured":"Zhai Y, Li J, Yu W et al (2017) Targeted exome sequencing of congenital cataracts related genes: broadening the mutation spectrum and genotype\u2013phenotype correlations in 27 Chinese Han families. Sci Rep 7:1219","journal-title":"Sci Rep"},{"key":"11427_CR19","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1007\/s12013-023-01169-6","volume":"81","author":"H Wang","year":"2023","unstructured":"Wang H, Ouyang G, Zhu Y (2023) D348N mutation of BFSP1 gene in congenital cataract: it does matter. Cell Biochem Biophys 81:757\u2013763","journal-title":"Cell Biochem Biophys"},{"key":"11427_CR20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12881-019-0933-5","volume":"20","author":"S Li","year":"2019","unstructured":"Li S, Zhang J, Cao Y, You Y, Zhao X (2019) Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing. BMC Med Genet 20:1\u201311","journal-title":"BMC Med Genet"},{"key":"11427_CR21","doi-asserted-by":"publisher","first-page":"e001064","DOI":"10.1136\/bmjophth-2022-001064","volume":"7","author":"JL Jones","year":"2022","unstructured":"Jones JL, McComish BJ, Staffieri SE et al (2022) Pathogenic genetic variants identified in Australian families with paediatric cataract. BMJ Open Ophthalmol 7:e001064","journal-title":"BMJ Open Ophthalmol"},{"key":"11427_CR22","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1002\/humu.22948","volume":"37","author":"AS Ma","year":"2016","unstructured":"Ma AS, Grigg JR, Ho G et al (2016) Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing. Hum Mutat 37:371\u2013384","journal-title":"Hum Mutat"},{"key":"11427_CR23","doi-asserted-by":"publisher","first-page":"608","DOI":"10.3390\/genes14030608","volume":"14","author":"JL Rossen","year":"2023","unstructured":"Rossen JL, Bohnsack BL, Zhang KX et al (2023) Evaluation of genetic testing in a cohort of diverse pediatric patients in the United States with congenital cataracts. Genes (Basel) 14:608","journal-title":"Genes (Basel)"},{"key":"11427_CR24","first-page":"589","volume":"22","author":"D Li","year":"2016","unstructured":"Li D, Wang S, Ye H et al (2016) Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population. Mol Vis 22:589\u2013598","journal-title":"Mol Vis"},{"key":"11427_CR25","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-019-0542-3","volume":"12","author":"BS Glicksberg","year":"2019","unstructured":"Glicksberg BS, Amadori L, Akers NK et al (2019) Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits. BMC Med Genomics 12:108","journal-title":"BMC Med Genomics"},{"key":"11427_CR26","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1038\/s41588-022-01148-2","volume":"54","author":"X Zhou","year":"2022","unstructured":"Zhou X, Feliciano P, Shu C et al (2022) Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet 54:1305\u20131319","journal-title":"Nat Genet"},{"key":"11427_CR27","doi-asserted-by":"publisher","DOI":"10.1186\/s12916-024-03466-0","volume":"22","author":"H Yuan","year":"2024","unstructured":"Yuan H, Liu Z, Chen M et al (2024) Protein truncating variants in mitochondrial-related nuclear genes and the risk of chronic liver disease. BMC Med 22:239","journal-title":"BMC Med"},{"key":"11427_CR28","doi-asserted-by":"publisher","DOI":"10.3390\/proteomes13010007","volume":"13","author":"C Karakosta","year":"2025","unstructured":"Karakosta C, Samiotaki M, Bisoukis A et al (2025) Differential signaling pathways identified in aqueous humor, anterior capsule, and crystalline lens of age-related, diabetic, and post-vitrectomy cataract. Proteomes 13:7","journal-title":"Proteomes"},{"key":"11427_CR29","doi-asserted-by":"publisher","DOI":"10.3390\/genes16050604","volume":"16","author":"V Berry","year":"2025","unstructured":"Berry V, Ponnekanti MB, Aychoua N et al (2025) Multimorbidity through the lens of the eye: pathogenic variants for multiple systemic disorders found in an autosomal dominant congenital cataract cohort. Genes 16:604","journal-title":"Genes"},{"key":"11427_CR30","doi-asserted-by":"publisher","first-page":"5252","DOI":"10.1167\/iovs.03-0224","volume":"44","author":"A Alizadeh","year":"2003","unstructured":"Alizadeh A, Clark J, Seeberger T, Hess J, Blankenship T, FitzGerald PG (2003) Targeted deletion of the lens fiber cell\u2013specific intermediate filament protein Filensin. Invest Ophthalmol Vis Sci 44:5252\u20135258","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-025-11427-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11033-025-11427-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-025-11427-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T11:32:36Z","timestamp":1768822356000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11033-025-11427-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,19]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,12]]}},"alternative-id":["11427"],"URL":"https:\/\/doi.org\/10.1007\/s11033-025-11427-w","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"value":"0301-4851","type":"print"},{"value":"1573-4978","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,19]]},"assertion":[{"value":"19 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study has obtained approval from the Ethical Committee and Institutional Review Board, School of Biochemistry and Biotechnology (SBB), University of the Punjab, Lahore, Pakistan and Institute of Molecular and Clinical Ophthalmology Basel (IOB), Switzerland. Written informed consents were obtained from all the participants in accordance with ethical guidelines.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All authors have provided their consent for the publication of this research.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"302"}}