{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T11:25:24Z","timestamp":1766748324586,"version":"3.37.3"},"reference-count":37,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,2,10]],"date-time":"2019-02-10T00:00:00Z","timestamp":1549756800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Shanghai Municipal Education Commission\/Gaofeng Clinical Medicine Grant Support","award":["20152526","16CR4027A","81771015"],"award-info":[{"award-number":["20152526","16CR4027A","81771015"]}]},{"name":"Three-year Action Program on Promotion of Clinical Skills\/Clinical Innovation for Municipal Hospitals","award":["20152526","16CR4027A","81771015"],"award-info":[{"award-number":["20152526","16CR4027A","81771015"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["20152526","16CR4027A","81771015"],"award-info":[{"award-number":["20152526","16CR4027A","81771015"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Disease Markers"],"published-print":{"date-parts":[[2019,2,10]]},"abstract":"<jats:p>Mutations in the<jats:italic>COL4A3<\/jats:italic>gene are frequently reported to be associated with various types of hereditary nephropathy.<jats:italic>COL4A3<\/jats:italic>encodes the<jats:italic>\u03b1<\/jats:italic>3 chain of type IV collagen, which is the main structural protein in the basement membrane. Mutations in this gene are always related to kidney performance, and deafness and ocular lesion have also been reported. In this study, using next-generation sequencing, we investigated the DNA of a family visiting a clinic for hearing loss. A new missense mutation was found in<jats:italic>COL4A3<\/jats:italic>of 5 patients, c.3227C&gt;T (p.P1076L). Based on these results, we predict that the mutation is pathogenic and leads to abnormal collagen IV. Here, we report for the first time on this autosomal dominant syndrome, characterized by hearing loss and eye abnormalities, but without renal damage, in all carriers. Since the oldest patient in the trial was less than 50 years old, however, we recommend that renal examination be reviewed regularly. Our results reveal expansion in the mutation spectrum of the<jats:italic>COL4A3<\/jats:italic>gene and phenotypic spectrum of collagen IV disease. Our study suggests that next-generation sequencing is an economical and effective method and may help in the accurate diagnosis and treatment of these patients.<\/jats:p>","DOI":"10.1155\/2019\/8705989","type":"journal-article","created":{"date-parts":[[2019,2,10]],"date-time":"2019-02-10T23:36:39Z","timestamp":1549841799000},"page":"1-8","source":"Crossref","is-referenced-by-count":5,"title":["A Novel Heterozygous Mutation of the<i>COL4A3<\/i>Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family"],"prefix":"10.1155","volume":"2019","author":[{"given":"Liang","family":"Xia","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, No. 600, Yishan Road, Xuhui District, 200233 Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yangjia","family":"Cao","sequence":"additional","affiliation":[{"name":"Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, 600 Yi-Shan Rd, Shanghai 200233, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5268-9645","authenticated-orcid":true,"given":"Yang","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, No. 600, Yishan Road, Xuhui District, 200233 Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangyi","family":"Ba","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, No. 600, Yishan Road, Xuhui District, 200233 Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiong","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3654-0028","authenticated-orcid":true,"given":"Shankai","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, No. 600, Yishan Road, Xuhui District, 200233 Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"issue":"1","key":"1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1681\/ASN.V12197","volume":"12","year":"2001","journal-title":"Journal of the American Society of 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