{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:26:31Z","timestamp":1787505991097,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T00:00:00Z","timestamp":1551225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000052","name":"NIH Office of the Director","doi-asserted-by":"publisher","award":["K01ES025435"],"award-info":[{"award-number":["K01ES025435"]}],"id":[{"id":"10.13039\/100000052","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p>\n                    In 2011, biallelic loss\u2010of\u2010function variants in the interleukin receptor 11 alpha gene\n                    <jats:italic>IL11RA<\/jats:italic>\n                    were found to be associated with a Crouzon\u2010like craniosynostosis syndrome with associated dental anomalies (CRSDA). Since then, a total of 41 similar patients have been reported with\n                    <jats:italic>IL11RA<\/jats:italic>\n                    variants. We report two adult brothers diagnosed with Crouzon syndrome as children, in which the clinical diagnosis of CRSDA was made on reevaluation. Laboratory testing detected biallelic\n                    <jats:italic>IL11RA<\/jats:italic>\n                    variants, c.916_924dup (p.Thr306_Ser308dup) and c.781C\u2009&gt;\u2009T (p.Arg261Cys), both of which have now been reported in other families. Protein modeling and conservation analysis show that these two mutation sites cluster together near a WSXWS motif that likely plays a significant role in regulating IL11RA protein function. Population analysis from gnomAD shows that Non\u2010Finnish Europeans (similar to ethnicity of this family), have an allele frequency for p.Thr306_Ser308dup of 0.014% and p.Arg261Cys of 0.008%. We found other ethnicities have functional\n                    <jats:italic>IL11RA<\/jats:italic>\n                    missense variants at higher frequencies. With this report, we provide a summary of the clinical findings including details of middle ear anomalies associated with conductive hearing loss. We also provide data supporting the populations at risk for this condition to increase recognition and diagnosis of this rare autosomal recessive craniosynostosis syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61070","type":"journal-article","created":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T12:14:22Z","timestamp":1551269662000},"page":"668-673","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of\n                    <i>IL11RA<\/i>\n                    variant population frequencies in a Crouzon\u2010like autosomal recessive syndrome"],"prefix":"10.1002","volume":"179","author":[{"given":"Nisha","family":"Korakavi","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Human Development Michigan State University College of Human Medicine  Grand Rapids Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy W.","family":"Prokop","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Human Development Michigan State University College of Human Medicine  Grand Rapids Michigan"},{"name":"Department of Pharmacology and Toxicology Michigan State University  East Lansing Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9136-101X","authenticated-orcid":false,"given":"Laurie H.","family":"Seaver","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Human Development Michigan State University College of Human Medicine  Grand Rapids Michigan"},{"name":"Division of Medical Genetics and Genomics Spectrum Health Helen DeVos Children's Hospital  Grand Rapids Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"29094","DOI":"10.1016\/S0021-9258(19)62017-X","article-title":"The role of WSXWS equivalent motif in growth hormone receptor function","volume":"269","author":"Baumgartner J.W.","year":"1994","journal-title":"Journal of Biological Chemistry"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13409"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.SCS.0000157078.53871.11"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1995.83.4.0575"},{"key":"e_1_2_6_6_1","first-page":"545","article-title":"Dysostose cranio\u2010faciale hereditaire","volume":"33","author":"Crouzon O.","year":"1912","journal-title":"Bulletins et M\u00e9moires de la Soci\u00e9t\u00e9 M\u00e9dicale des H\u00f4pitaux de Paris"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.1.89"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.28"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104215"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.024"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00894-017-3258-3"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-98"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03429.x"}],"container-title":["American Journal of Medical Genetics Part 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