{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:54:04Z","timestamp":1790376844238,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T00:00:00Z","timestamp":1726531200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Weiss\u2010Kruszka syndrome (WKS) is a rare genetic disorder characterized by metopic ridging, ptosis, arched eyebrows, down slanting palpebral fissures, abnormalities in the corpus callosum, cardiac malformations, and variable neurodevelopmental delay. To date, 32 individuals with a diagnosis of WKS have been reported in the literature. The syndrome is caused by a heterozygous pathogenic variant in the <jats:italic>ZNF462<\/jats:italic> gene or a deletion of the 9p31.2 region involving <jats:italic>ZNF462<\/jats:italic>. There is significant phenotypic heterogeneity and intrafamilial variability among these patients. Our study reviewed nine patients from seven unrelated families and identified seven novel heterozygous <jats:italic>ZNF462<\/jats:italic> variants through exome sequencing. GestaltMatcher analysis of our cohort's facial images, alongside previously published images of <jats:italic>ZNF462<\/jats:italic> patients, demonstrated a high degree of facial similarity. Further longitudinal research is needed to delineate this rare condition's long\u2010term health implications and adult\u2010onset features.<\/jats:p>","DOI":"10.1002\/ajmg.a.63856","type":"journal-article","created":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T18:34:10Z","timestamp":1726598050000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Seven Novel Variants of Weiss\u2010Kruszka Syndrome and Phenotype Expansion"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5707-9774","authenticated-orcid":false,"given":"Anna","family":"Hau","sequence":"first","affiliation":[{"name":"Hunter Genetics Hunter New England Health Service  Newcastle Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Baxter","sequence":"additional","affiliation":[{"name":"Hunter Genetics Hunter New England Health Service  Newcastle Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Chandler","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust, Saint Mary's Hospital  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Fennell","sequence":"additional","affiliation":[{"name":"Monash Genetics Monash Health  Melbourne Australia"},{"name":"Department of Paediatrics Monash University  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzung\u2010Chien","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Institute for Genomic Statistics and Bioinformatics University Hospital Bonn, Rheinische Friedrich\u2010Wilhelms\u2010Universit\u00e4t Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3194-8625","authenticated-orcid":false,"given":"Peter M.","family":"Krawitz","sequence":"additional","affiliation":[{"name":"Institute for Genomic Statistics and Bioinformatics University Hospital Bonn, Rheinische Friedrich\u2010Wilhelms\u2010Universit\u00e4t Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Pinner","sequence":"additional","affiliation":[{"name":"Sydney Children's Hospitals Network  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6448-6618","authenticated-orcid":false,"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[{"name":"Hunter Genetics Hunter New England Health Service  Newcastle Australia"},{"name":"School of Medicine and Public Health University of Newcastle  Callaghan New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2116"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.MODGEP.2006.11.009"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kead035"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.02.002"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2012.10.026"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/17843286.2020.1780391"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010021\u201001010\u2010x"},{"key":"e_1_2_11_9_1","doi-asserted-by":"crossref","unstructured":"Hustinx A. F.Hellmann O.S\u00fcmer et al.2023.\u201cImproving Deep Facial Phenotyping for Ultra\u2010Rare Disorder Verification Using Model Ensembles.\u201dhttps:\/\/db.gestaltmatcher.org\/.","DOI":"10.1109\/WACV56688.2023.00499"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201020\u20101387"},{"key":"e_1_2_11_11_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Kruszka P.","year":"1993"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61306"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.12.005"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/2023.06.06.23290887"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.YEXCR.2010.02.024"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2021.36.e133"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104457"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200995"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000072161.33788.56"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12339"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.86"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41556\u2010022\u201001051\u20102"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.781832"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1015021"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T05:47:48Z","timestamp":1735883268000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63856"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,17]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/ajmg.a.63856"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63856","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,17]]},"assertion":[{"value":"2024-06-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63856"}}