{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:25:30Z","timestamp":1760149530635,"version":"build-2065373602"},"reference-count":38,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:00:00Z","timestamp":1692576000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"King Saud University, Riyadh, Saudi Arabia.","award":["RSP2023R349"],"award-info":[{"award-number":["RSP2023R349"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Congenital cataract (CC) causes a third of the cases of treatable childhood blindness worldwide. CC is a disorder of the crystalline lens which is established as clinically divergent and has complex heterogeneity. This study aimed to determine the genetic basis of CC. Whole blood was obtained from four consanguineous families with CC. Genomic DNA was extracted from the blood, and the combination of targeted and Sanger sequencing was used to identify the causative gene. The mutations detected were analyzed in silico for structural and protein\u2013protein interactions to predict their impact on protein activities. The sequencing found a known FYCO1 mutation (c.2206C&gt;T; p.Gln736Term) in autosomal recessive mode in families with CC. Co-segregation analysis showed affected individuals as homozygous and carriers as heterozygous for the mutation and the unaffected as wild-type. Bioinformatics tools uncovered the loss of the Znf domain and structural compactness of the mutant protein. In conclusion, a previously reported nonsense mutation was identified in four consanguineous families with CC. Structural analysis predicted the protein as disordered and coordinated with other structural proteins. The autophagy process was found to be significant for the development of the lens and maintenance of its transparency. The identification of these markers expands the scientific knowledge of CC; the future goal should be to understand the mechanism of disease severity. Ascertaining the genetic etiology of CC in a family member facilitates establishing a molecular diagnosis, unlocks the prospect of prenatal diagnosis in pregnancies, and guides the successive generations by genetic counseling.<\/jats:p>","DOI":"10.3390\/life13081788","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T00:46:22Z","timestamp":1692665182000},"page":"1788","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9316-0967","authenticated-orcid":false,"given":"Muhammad Ikram","family":"Ullah","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zaira","family":"Rehman","sequence":"additional","affiliation":[{"name":"Department of Pathology, Indus Hospital & Health Network, Karachi 75190, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rubina","family":"Dad","sequence":"additional","affiliation":[{"name":"Structure Biology Research Centre, Human Technopole, 20157 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6839-8866","authenticated-orcid":false,"given":"Abdullah","family":"Alsrhani","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Shakil","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, King Edward Medical University, Lahore 54600, Pakistan"},{"name":"Department of Biochemistry, University of Health Sciences, Lahore 54600, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heba Bassiony","family":"Ghanem","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8467-9692","authenticated-orcid":false,"given":"Ayman Ali Mohammed","family":"Alameen","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5955-7311","authenticated-orcid":false,"given":"Mohamed Farouk","family":"Elsadek","sequence":"additional","affiliation":[{"name":"Department of Community Health Sciences, College of Applied Medical Sciences, King Saud University, Riyadh 11433, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lienda Bashier","family":"Eltayeb","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Sciences, College of Applied Medical Sciences, Prince Sattam Bin Abdul-Aziz University, Al-Kharj, Riyadh 11942, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sajjad","family":"Ullah","sequence":"additional","affiliation":[{"name":"University Institute of Medical Laboratory Technology, Faculty of Allied Health Sciences, The University of Lahore, Lahore 54600, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8921-4376","authenticated-orcid":false,"given":"Muhammad","family":"Atif","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.4103\/ijo.IJO_1023_17","article-title":"Pediatric cataract","volume":"65","author":"Khokhar","year":"2017","journal-title":"Indian J. 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