{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:16Z","timestamp":1772160076382,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia\/microphthalmia, and Cardiac defects (PDAC) syndrome is a genetically heterogeneous multiple congenital malformation syndrome. Although pathogenic variants in\n                    <jats:italic>RARB<\/jats:italic>\n                    and\n                    <jats:italic>STRA6<\/jats:italic>\n                    are established causes of PDAC, many PDAC cases remain unsolved at the molecular level. Recently, we proposed biallelic\n                    <jats:italic>WNT7B<\/jats:italic>\n                    variants as a novel etiology\u00a0based on several families with typical features of PDAC syndrome albeit with variable expressivity. Here, we report three patients from two families that share a novel founder variant in\n                    <jats:italic>WNT7B<\/jats:italic>\n                    (c.739C\u2009&gt;\u2009T; Arg247Trp). The phenotypic expression of this variant ranges from typical PDAC features to isolated genitourinary anomalies. Similar to previously reported PDAC\u2010associated\n                    <jats:italic>WNT7B<\/jats:italic>\n                    variants, this variant was found to significantly impair WNT7B signaling activity further corroborating its proposed pathogenicity. This report adds further evidence to\n                    <jats:italic>WNT7B<\/jats:italic>\n                    \u2010related PDAC and expands its variable expressivity.\n                  <\/jats:p>","DOI":"10.1111\/cge.14512","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T20:47:57Z","timestamp":1709153277000},"page":"66-71","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A founder variant expands the phenotype of\n                    <scp>\n                      <i>WNT7B<\/i>\n                    <\/scp>\n                    \u2010related\n                    <scp>PDAC<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"106","author":[{"given":"Lama","family":"AlAbdi","sequence":"first","affiliation":[{"name":"Department of Zoology, Collage of Science King Saud University  Riyadh Saudi Arabia"},{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuhair","family":"Rahbeeni","sequence":"additional","affiliation":[{"name":"Department of Medical Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sateesh","family":"Maddirevula","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rana","family":"Helaby","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Firdous","family":"Abdulwahab","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arif O.","family":"Khan","sequence":"additional","affiliation":[{"name":"Eye Institute Cleveland Clinic Abu Dhabi  Abu Dhabi United Arab Emirates"},{"name":"Department of Ophthalmology Cleveland Clinic Lerner College of Medicine of Case Western Reserve University  Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa G.","family":"Riley","sequence":"additional","affiliation":[{"name":"Rare Diseases Functional Genomics, Kids Research The Children's Hospital at Westmead and The Children's Medical Research Institute  Sydney New South Wales Australia"},{"name":"Specialty of Child &amp; Adolescent Health, Sydney Medical School University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amal","family":"Alhashem","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetic and Metabolic Medicine, Department of Pediatrics Prince Sultan Military Medical City  Riyadh Saudi Arabia"},{"name":"College of Medicine Alfaisal University  Riyadh Saudi Arabia"},{"name":"Department of Genetic and Metabolic, Sehha Virtual Hospital Ministry of Health  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0234-8820","authenticated-orcid":false,"given":"Nicolas","family":"Chassaing","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Affections Rares en G\u00e9n\u00e9tique Ophtalmologique CARGO, Site Constitutif Purpan University Hospital  Toulouse Midi\u2010Pyr\u00e9n\u00e9es France"},{"name":"Department of Medical Genetics Purpan University Hospital  Toulouse Midi\u2010Pyr\u00e9n\u00e9es France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robyn V.","family":"Jamieson","sequence":"additional","affiliation":[{"name":"Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney; The Children's Hospital at Westmead Sydney Children's Hospitals Network; and Save Sight Institute  Sydney New South Wales Australia"},{"name":"Specialty of Genomic Medicine, Faculty of Medicine and Health and Child and Adolescent Health University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"},{"name":"Division of Clinical Genetic and Metabolic Medicine, Department of Pediatrics Prince Sultan Military Medical City  Riyadh Saudi Arabia"},{"name":"College of Medicine Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/512203"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.014"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2033911"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2022-108475"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.015"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.011"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-40909-3"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aat1178"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31788"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21023"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01904.x"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33038"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21590"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100856"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.05.016"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03928"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0373"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1374"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2006.11.003"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003-021-02118-w"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.015495"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.20.4831"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.022087"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63301"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14512","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T00:50:08Z","timestamp":1717375808000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,28]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1111\/cge.14512"],"URL":"https:\/\/doi.org\/10.1111\/cge.14512","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14512\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14512\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14512\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14512\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14512\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14512\/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":[[2024,2,28]]},"assertion":[{"value":"2023-12-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}