{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T16:59:39Z","timestamp":1781110779922,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T00:00:00Z","timestamp":1580256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alport syndrome (AS) is an inherited disorder of basement membranes caused by mutations affecting specific proteins of the type IV collagen family, presenting with nephropathy and extrarenal manifestations such as sensorineural deafness and ocular anomalies. Ten percentage to 15% of the patients with AS have autosomal recessive (ARAS) due to mutation in either <jats:italic>COL4A3<\/jats:italic> or <jats:italic>COL4A4<\/jats:italic> gene. We report a novel mutation in the <jats:italic>COL4A3<\/jats:italic> gene in an Indian family with ARAS. The above\u2010mentioned genetic anomaly was a missense variation in exon 26 of the <jats:italic>COL4A3<\/jats:italic> gene (chr2:228137797G&gt;A; c.1891G&gt;A) that resulted in the amino acid substitution of Arginine for Glycine at codon 631 (p.Gly631Arg) that was present in the heterozygous state in the asymptomatic parents and homozygous state in the male offspring who presented with early\u2010onset end\u2010stage renal disease, lenticonus and hearing loss. The patient (male offspring) underwent successful renal transplantation with his mother as a donor.<\/jats:p>","DOI":"10.1111\/nep.13693","type":"journal-article","created":{"date-parts":[[2020,1,11]],"date-time":"2020-01-11T06:24:50Z","timestamp":1578723890000},"page":"497-501","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome"],"prefix":"10.1111","volume":"25","author":[{"given":"Niveditha","family":"Girimaji","sequence":"first","affiliation":[{"name":"Department of Nephrology Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakthivel","family":"Murugan SM","sequence":"additional","affiliation":[{"name":"MedGenome Labs Ltd.  Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritambhra","family":"Nada","sequence":"additional","affiliation":[{"name":"Department of Histopathology Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Renal Transplant Surgery Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish","family":"Rathi","sequence":"additional","affiliation":[{"name":"Department of Nephrology Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harbir S.","family":"Kohli","sequence":"additional","affiliation":[{"name":"Department of Nephrology Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5713-6919","authenticated-orcid":false,"given":"Krishna L.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Nephrology Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1273-9107","authenticated-orcid":false,"given":"Raja","family":"Ramachandran","sequence":"additional","affiliation":[{"name":"Department of Nephrology Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1985.63"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-77"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfn779"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161802"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-3985-4"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2012020148"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"issue":"1","key":"e_1_2_5_9_1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1681\/ASN.V12197","article-title":"Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome","volume":"12","author":"Heidet L","year":"2001","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2012100985"},{"key":"e_1_2_5_11_1","unstructured":"Pfam: Protein: CO4A3_HUMAN (Q01955) [Internet].http:\/\/pfam.xfam.org\/protein\/Q01955. 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