{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T17:50:45Z","timestamp":1782841845572,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T00:00:00Z","timestamp":1758326400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T00:00:00Z","timestamp":1758326400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Autosomal recessive polycystic kidney disease (ARPKD) is a rare but severe hereditary renal disorder characterized by bilaterally enlarged, cystic kidneys and varying degrees of hepatic fibrosis, often leading to early\u2010onset kidney failure and significant morbidity. While most ARPKD cases are linked to mutations in the\n                    <jats:italic>PKHD1<\/jats:italic>\n                    gene, recent advances in genomic sequencing have revealed that mutations in other genes, including\n                    <jats:italic>PDIA6<\/jats:italic>\n                    , may contribute to similar phenotypes. The\n                    <jats:italic>PDIA6<\/jats:italic>\n                    gene encodes protein disulfide isomerase A6, which plays a critical role in protein folding within the endoplasmic reticulum (ER) and in the regulation of ER stress responses. Here, we report a rare and complex case of a full\u2010term male neonate born to consanguineous Syrian refugee parents, who presented with a clinical constellation of features including polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Genetic analysis using whole\u2010exome sequencing identified a homozygous two\u2010base deletion in exon 5 of the\n                    <jats:italic>PDIA6<\/jats:italic>\n                    , resulting in a premature stop codon. Early diagnosis via genomic tools is essential for prognosis, management, and genetic counseling.\n                  <\/jats:p>","DOI":"10.1111\/cge.70074","type":"journal-article","created":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T11:49:21Z","timestamp":1758368961000},"page":"586-590","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of\n                    <i>PDIA6<\/i>\n                    Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-4544-0467","authenticated-orcid":false,"given":"Reem H.","family":"Al\u2010Hadidi","sequence":"first","affiliation":[{"name":"Al\u2010Hussain New Salt Hospital Ministry of Health  Al\u2010Salt Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2597-1294","authenticated-orcid":false,"given":"Lina A.","family":"Abu Sirhan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Al\u2010Balqa Applied University  Al\u2010Salt Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,9,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2017.06.013"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-021-05192-8"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-020-00922-4"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13930"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14187"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_8_1","first-page":"15","article-title":"ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024","volume":"12","author":"Durkie M.","year":"2024","journal-title":"Division of Genetics and Epidemiology"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.5483\/BMBRep.2023-0247"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2020.08.012"},{"key":"e_1_2_9_11_1","unstructured":"\u201cPDIA6 Protein Disulfide Isomerase Family A Member 6 [Homo sapiens(human)]\u2014Gene\u2014NCBI [Internet] \u201dassessed Jun 6 2025 https:\/\/www.ncbi.nlm.nih.gov\/gene\/10130."},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmet.2021.101334"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00221"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70074","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70074","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70074","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T04:34:35Z","timestamp":1770870875000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70074"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,20]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1111\/cge.70074"],"URL":"https:\/\/doi.org\/10.1111\/cge.70074","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70074\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70074\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70074\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70074\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70074\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70074\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70074\/v2\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,20]]},"assertion":[{"value":"2025-06-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}