{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T20:18:03Z","timestamp":1792441083554,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,4,2]],"date-time":"2023-04-02T00:00:00Z","timestamp":1680393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2705102"],"award-info":[{"award-number":["2022YFC2705102"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070688"],"award-info":[{"award-number":["82070688"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82270746"],"award-info":[{"award-number":["82270746"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic Wnt ligand secretion mediator (\n                    <jats:italic>WLS<\/jats:italic>\n                    gene) variants are associated with Zaki syndrome (OMIM: #619648). Here, we report the first case with Zaki syndrome in the Chinese population. Whole\u2010exome gene sequencing (WES) identified compound heterozygous variants in the\n                    <jats:italic>WLS<\/jats:italic>\n                    gene (c.1427A\u2009&gt;\u2009G; p.Tyr476Cys and c.415C\u2009&gt;\u2009T, p.Arg139Cys; NM_001002292) in a 16\u2010year\u2010old boy presenting with facial dysmorphism, astigmatism, renal agenesis, and cryptorchidism. In vitro functional characterization showed that the two variants led to decreased WLS production and secretion of WNT3A, eventually affecting the WNT signal. We also found that the decreased mutant WLS expression can be rescued by 4\u2010Phenylbutyric acid (4\u2010PBA).\n                  <\/jats:p>","DOI":"10.1111\/cge.14334","type":"journal-article","created":{"date-parts":[[2023,4,2]],"date-time":"2023-04-02T21:53:57Z","timestamp":1680472437000},"page":"226-229","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Compound heterozygous variants in\n                    <scp>\n                      <i>WLS<\/i>\n                    <\/scp>\n                    gene causes\n                    <scp>Zaki<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"104","author":[{"given":"Cuicui","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing 210008 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunli","family":"Wang","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University  Nanjing 210008 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhou","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University  Nanjing 210008 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aihua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing 210008 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhanjun","family":"Jia","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University  Nanjing 210008 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3457-6545","authenticated-orcid":false,"given":"Bixia","family":"Zheng","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University  Nanjing 210008 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guixia","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing 210008 China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2033911"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11515-012-1200-8"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.200634"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.02.049"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2020.11.038"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.05.016"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2009.06.016"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.04.009"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.072132"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14334","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T10:19:25Z","timestamp":1704190765000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,2]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1111\/cge.14334"],"URL":"https:\/\/doi.org\/10.1111\/cge.14334","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14334\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14334\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14334\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14334\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14334\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14334\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,2]]},"assertion":[{"value":"2023-02-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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