{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T05:55:26Z","timestamp":1785477326388,"version":"3.56.0"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T00:00:00Z","timestamp":1557100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T00:00:00Z","timestamp":1557100800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Beijing key laboratory of molecular diagnosis and study on pediatric genetic diseases","award":["BZ0317"],"award-info":[{"award-number":["BZ0317"]}]},{"name":"National Key Research and Development Program of China : the registry study of rare diseases in children","award":["No. 2016YFC0901505"],"award-info":[{"award-number":["No. 2016YFC0901505"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The aim of this study was to analyze the diverse phenotypes of children with\n                      <jats:italic>PAX2<\/jats:italic>\n                      \u2010related disorder so as to improve our understanding of this disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The clinical data of ten children with\n                      <jats:italic>PAX2<\/jats:italic>\n                      mutations, detected by targeted region capture sequencing or whole\u2010exome sequencing, were retrospectively analyzed. Family members of index cases were verified by Sanger sequencing and family segregation analysis was performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The age of first symptom of 10 unrelated children (six girls and four boys) was 6.4 (ranged from postnatal day to 14.8) years old. Proteinuria, abnormal renal function, and structure were found in all patients. Renal hypoplasia and renal cysts were found in 10 of 10 and five of 10 cases, respectively. Three patients progressed to chronic kidney disease stage 5 and the onset age of end\u2010stage renal disease was 9.8\u201316.4\u00a0years old.\n                      <jats:italic>PAX2<\/jats:italic>\n                      \u2010related ocular abnormalities were found in five of seven cases and three patients were observed to have more than one ocular findings involved. In addition to diverse renal and ocular findings, new phenotypes including congenital ventricular septal defect, skeletal deformity (fourth metatarsal microsomia), ovarian teratoma, and relatively rare extrarenal manifestations such as growth retardation, gout, and microcephaly were also found. Three novel mutations were reported for the first time.\n                      <jats:italic>De novo<\/jats:italic>\n                      mutations occurred in all patients who were carried out segregation analysis. Patients with the same mutation had different manifestations.\n                      <jats:italic>PAX2<\/jats:italic>\n                      \u2010related disorder showed remarkable clinical variability and phenotypic heterogeneity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We firstly reported skeletal deformity (fourth metatarsal microsomia), ovarian teratoma, and congenital ventricular septal defect as new phenotypes of\n                      <jats:italic>PAX2<\/jats:italic>\n                      \u2010related disorder which enlarged the phenotypic spectrum. Gout was firstly reported as the onset symptom of\n                      <jats:italic>PAX2<\/jats:italic>\n                      \u2010related disorder. The diagnosis of\n                      <jats:italic>PAX2<\/jats:italic>\n                      \u2010related disorder should be considered without family history due to a much higher percentage of\n                      <jats:italic>De novo<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.701","type":"journal-article","created":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T18:40:51Z","timestamp":1557168051000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Diverse phenotypes in children with\n                    <i>PAX2<\/i>\n                    \u2010related disorder"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5227-6733","authenticated-orcid":false,"given":"Haiyue","family":"Deng","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5599-1559","authenticated-orcid":false,"given":"Yanqin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijie","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baige","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongwen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suxia","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Electron Microscopy Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013070686"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfm187"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22020"},{"key":"e_1_2_7_5_1","volume-title":"GeneReviews((R))","author":"Bower M. 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