{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T10:05:24Z","timestamp":1750759524854,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T00:00:00Z","timestamp":1618963200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["#16kk0205001h0501","#16kk0205012h1001","19ek0109301h0002"],"award-info":[{"award-number":["#16kk0205001h0501","#16kk0205012h1001","19ek0109301h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Transient receptor potential channel C6 encoded by <jats:italic>TRPC6<\/jats:italic> is involved in slit diaphragm formation in podocytes, and abnormalities of the TRPC6 protein cause various glomerular diseases. The first identified pathogenic variant of <jats:italic>TRPC6<\/jats:italic> was found to cause steroid\u2010resistant nephrotic syndrome that typically developed in adulthood and then slowly led to end\u2010stage renal disease, along with a renal pathology of focal segmental glomerulosclerosis. Here, we report a patient with rapidly progressing infantile nephrotic syndrome and a heterozygous missense <jats:italic>TRPC6<\/jats:italic> variant. The patient, a 2\u2010year\u2010old Japanese boy, developed steroid\u2010resistant nephrotic syndrome at age 11\u2009months. His renal function deteriorated rapidly, and peritoneal dialysis was introduced at age 1\u00a0year and 6\u00a0months. His renal pathology, obtained at age 1\u00a0year and 1\u00a0month, was consistent with diffuse mesangial sclerosis (DMS). Clinical exome analysis and custom panel analysis for hereditary renal diseases revealed a reported heterozygous missense variant in <jats:italic>TRPC6<\/jats:italic> (NM_004621.5:c.523C\u2009&gt;\u2009T:p.Arg175Trp). This is the first report of a patient with a TRPC6\u2010related renal disorder associated with DMS.<\/jats:p>","DOI":"10.1002\/ajmg.a.62216","type":"journal-article","created":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T12:04:32Z","timestamp":1619093072000},"page":"2175-2179","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Heterozygous missense variant in <scp><i>TRPC6<\/i><\/scp> in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis"],"prefix":"10.1002","volume":"185","author":[{"given":"Hiroaki","family":"Hanafusa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"},{"name":"Division of Clinical Sequencing Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Problem\u2010Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next Generation Super Doctor) Project  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiko","family":"Hidaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Department of Molecular Genetics Wakayama Medical University  Wakayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomomi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"},{"name":"Division of Clinical Sequencing Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisashi","family":"Shimojo","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Shinshu University Graduate School of Medicine  Matsumoto Japan"},{"name":"Department of Pathology Aizawa Hospital  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Tsukahara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Iida Municipal Hospital  Iida Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsubasa","family":"Murase","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Matsuoka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nao","family":"Chiba","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shun","family":"Shimada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Morokawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Omori","sequence":"additional","affiliation":[{"name":"Department of Pediatric Intensive Care Nagano Children's Hospital  Azumino Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hironori","family":"Minoura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Intensive Care Nagano Children's Hospital  Azumino 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Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Wakui","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimitsu","family":"Fukushima","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Uehara","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Shinshu University Graduate School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yozo","family":"Nakazawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0290-3137","authenticated-orcid":false,"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu 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