{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:40:22Z","timestamp":1791099622555,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T00:00:00Z","timestamp":1344211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive Alport syndrome (ARAS) results from mutations in the <jats:italic>COL4A3<\/jats:italic> or <jats:italic>COL4A4<\/jats:italic> gene. We analyzed the genotype and phenotype of 17 unrelated Chinese patients with ARAS. Clinical data were reviewed. All coding exons of <jats:italic>COL4A3<\/jats:italic> and <jats:italic>COL4A4<\/jats:italic> genes were PCR\u2010amplified and sequenced from genomic DNA. We identified pathologic mutations in all patients, giving a mutation detection rate of 100%, with 82% in <jats:italic>COL4A3<\/jats:italic> gene and 18% in <jats:italic>COL4A4<\/jats:italic> gene. Sixteen novel mutations in <jats:italic>COL4A3<\/jats:italic> gene and four novel mutations in <jats:italic>COL4A4<\/jats:italic> gene were identified. Furthermore, a previously reported in\u2010frame deletion mutation (40_63del24) in exon 1 of the <jats:italic>COL4A3<\/jats:italic> gene was found in four patients in our study. A single 40_63del24 mutation in <jats:italic>COL4A3<\/jats:italic> seems to result in mild or no renal manifestations, whereas the homozygous state of 40_63del24 in <jats:italic>COL4A3<\/jats:italic> gene or compound heterozygous mutation of 40_63del24 plus another nonsense or frameshift mutation in <jats:italic>COL4A3<\/jats:italic> gene seems to result severe ARAS with hearing loss. Half of the probands' parents had hematuria with or without mild proteinuria. Therefore, we recommend that ARAS be considered when a patient has a positive family history of hematuria, and screening for <jats:italic>COL4A3<\/jats:italic> mutations firstly may be an efficient strategy for molecular diagnosis of ARAS. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35528","type":"journal-article","created":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T20:13:10Z","timestamp":1344283990000},"page":"2188-2193","source":"Crossref","is-referenced-by-count":32,"title":["Genotype\u2013phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome"],"prefix":"10.1002","volume":"158A","author":[{"given":"Yanqin","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongwen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lixia","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijie","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuhui","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suxia","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,8,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1681\/ASN.V1351248","article-title":"Mutations 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