{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T06:10:12Z","timestamp":1756447812517,"version":"3.44.0"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Alport syndrome (AS) is an inherited disorder affecting basement membrane collagen IV. AS is characterized by hematuria and progressive renal failure, accompanied by high-frequency sensorineural deafness and ocular changes. AS is caused by collagen type IV \u03b13 chain (<jats:italic>COL4A3<\/jats:italic>), \u03b14 chain (<jats:italic>COL4A4<\/jats:italic>), and \u03b15 chain (<jats:italic>COL4A5<\/jats:italic>) variants. We aimed to identify the genetic variants in a cohort of 20 children with clinically suspected AS in Southwest China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We detected 21 <jats:italic>COL4A3<\/jats:italic>, <jats:italic>COL4A4<\/jats:italic>, and <jats:italic>COL4A5<\/jats:italic> variants in 20 probands. Of these variants, 16 (16\/21, 76.2%) were classified as pathogenic\/likely pathogenic and 5 (5\/21, 23.8%) of uncertain significance according to the American College of Medical Genetics and Genomics criteria. A total of 11 (11\/21, 52.4%) and 10 (10\/21, 47.6%) variants were known and novel, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We performed molecular diagnosis on 15 patients using targeted exome sequencing. Our findings indicate additional <jats:italic>COL4A3<\/jats:italic>, <jats:italic>COL4A4<\/jats:italic>, and <jats:italic>COL4A5<\/jats:italic> variants as involved in AS, having implications for genetic diagnosis, therapy, and counseling of affected families.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2025.1580864","type":"journal-article","created":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T05:45:45Z","timestamp":1756446345000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China"],"prefix":"10.3389","volume":"16","author":[{"given":"Cong","family":"Zhou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanyuan","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanling","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,8,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1056\/NEJMra1711801","article-title":"Next-generation sequencing to diagnose suspected genetic disorders","volume":"379","author":"Adams","year":"2018","journal-title":"N. 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