{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T23:50:35Z","timestamp":1763077835413},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,4,22]],"date-time":"2013-04-22T00:00:00Z","timestamp":1366588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip\/palate and ankyloblepharon. Sparse hair, dysplastic nails and hypohidrosis were subsequently noted. With exception of speech related issues, her development was normal. A clinical diagnosis of ankyloblepharon\u2013ectodermal defects\u2010cleft lip\/palate or Hay\u2013Wells syndrome resulted in <jats:italic>TP63<\/jats:italic> sequence analysis. <jats:italic>TP63<\/jats:italic> sequence and deletion\/duplication analysis of all coding exons had a normal result, as did chromosome and SNP array analysis. Diagnostic exome analysis revealed a heterozygous nonsense mutation in <jats:italic>KRT83<\/jats:italic> categorized as deleterious and associated with monilethrix. In addition, a homozygous missense variant of unknown clinical significance was reported in <jats:italic>RIPK4<\/jats:italic>. Using research based exome analysis, <jats:italic>RIPK4<\/jats:italic> had just a few months prior been identified as pathogenic for Bartsocas\u2013Papas syndrome. While the clinical diagnostic report implied the <jats:italic>KRT83<\/jats:italic> mutation as a more likely cause for the patient's phenotype, clinical correlation, literature review and use of computerized mutation analysis programs allowed us to identify the homozygous <jats:italic>RIPK4<\/jats:italic> (c.488G\u2009&gt;\u2009A; p.Gly163Asp) mutation as the underlying pathogenic change. Consequently, we expand the phenotype of Bartsocas\u2013Papas syndrome to an attenuated presentation resembling Hay\u2013Wells syndrome, lacking lethality and pterygia. In contrast to the autosomal dominant Hay\u2013Wells syndrome, Bartsocas\u2013Papas syndrome is autosomal recessive, implying a 25% recurrence risk. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35913","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T03:09:12Z","timestamp":1366686552000},"page":"1058-1063","source":"Crossref","is-referenced-by-count":25,"title":["Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas\u2013Papas Syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Karen W.","family":"Gripp","sequence":"first","affiliation":[{"name":"Division of Medical Genetics A. I. duPont Hospital for Children Wilmington, Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Ennis","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics A. I. duPont Hospital for Children Wilmington, Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Napoli","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery A. I. duPont Hospital for Children Wilmington, Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000731)93:3<194::AID-AJMG6>3.0.CO;2-X"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.2.222"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34190"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.014"},{"key":"e_1_2_6_6_1","first-page":"34","article-title":"Craniofacial characteristics evidenced in Bartsocas\u2013Papas syndrome from birth to five years","volume":"72","author":"Maganzini AL","year":"2006","journal-title":"N Y State Dent J"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.013"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31271"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30096"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32791"},{"key":"e_1_2_6_11_1","unstructured":"SuttonVR BreeAF van BokhovenH.2010. Anlyloblepharon\u2013ectodermal defects\u2010cleft lip\/palate syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Available athttp:\/\/www.genetests.orgAccessed December 26 2012."},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20308"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35913","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35913","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T01:31:11Z","timestamp":1698629471000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35913"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,22]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1002\/ajmg.a.35913"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35913","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,22]]}}}