{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T08:02:38Z","timestamp":1779782558782,"version":"3.53.1"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The purpose of this study is to explore the phenotypic spectrum observed in individuals and between families with confirmed variants in the T\u2010Box Transcription Factor 22 gene (\n                    <jats:italic>TBX22<\/jats:italic>\n                    ). Pathogenic variants in\n                    <jats:italic>TBX22<\/jats:italic>\n                    have been identified in individuals with classic X\u2010linked cleft palate (CPX) and also in Abruzzo\u2010Erickson Syndrome (ABERS). We compare the phenotypic features of a newly suspected family with ABERS to those of the original family with ABERS to help determine if family\u2010specific pathogenic variants in\n                    <jats:italic>TBX22<\/jats:italic>\n                    are the cause of ABERS. Furthermore, we discuss possible mechanisms of action of the identified\n                    <jats:italic>TBX22<\/jats:italic>\n                    variants. We conducted an observational case series in a new family (Family B) suspected of having ABERS, and a retrospective review of participants in the original family with ABERS (Family A), as described by Abruzzo and Erickson (1977). Thirteen individuals from two different families were included in this case series. As previously reported in 2013, DNA samples from four individuals in Family A were screened for variants in\n                    <jats:italic>TBX22,<\/jats:italic>\n                    and each was found to carry the same unique pathogenic variant. Five individuals from Family B were screened for variants in\n                    <jats:italic>TBX22,<\/jats:italic>\n                    and the four with abnormal features were found to be positive for a new pathogenic variant; however, the variant segregating in this family differed from the one present in Family A. Despite this, there was considerable overlap between Family A and Family B in phenotypic features. Thus, we hypothesize that gain\u2010of\u2010function pathogenic variants in\n                    <jats:italic>TBX22<\/jats:italic>\n                    are the probable cause of ABERS in both Family A and Family B.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70066","type":"journal-article","created":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T05:34:22Z","timestamp":1770096862000},"page":"1396-1402","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Reviews for Two Families With Unique Variants in\n                    <scp>\n                      <i>TBX22<\/i>\n                    <\/scp>\n                    Causing Abruzzo\u2010Erickson Syndrome"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-0069-9586","authenticated-orcid":false,"given":"Kamerin","family":"Smith","sequence":"first","affiliation":[{"name":"Health Science Center at Fort Worth The University of North Texas  Fort Worth Texas USA"},{"name":"Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Abruzzo","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences California State University, Chico  Chico California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5298-5038","authenticated-orcid":false,"given":"Robert P.","family":"Erickson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Surgery University of Arizona College of Medicine  Tucson Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Thomas","sequence":"additional","affiliation":[{"name":"Cook Children's Genetics Center  Fort Worth Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Kukolich","sequence":"additional","affiliation":[{"name":"Cook Children's Genetics Center  Fort Worth Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.1.76"},{"issue":"4","key":"e_1_2_11_3_1","first-page":"477","article-title":"Molecular Genetics of Pediatric Orofacial Clefts\u2010An Overview","volume":"14","author":"Ahoury A.","year":"2023","journal-title":"Journal of Pharmaceutical Negative Results"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/521033"},{"issue":"4","key":"e_1_2_11_5_1","first-page":"330","article-title":"Do Endocrine Disruptors Cause Hypospadias?","volume":"3","author":"Botta S.","year":"2014","journal-title":"Translational Andrology and Urology"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng730"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.22.2793"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000009570"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.06.009"},{"issue":"3","key":"e_1_2_11_10_1","first-page":"336","article-title":"The Genetics of Cleft Lip and Cleft Palate","volume":"22","author":"Fraser F. C.","year":"1970","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1503-8"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22421"},{"key":"e_1_2_11_13_1","unstructured":"Invitae Family History Tool.2025.\u201cInvitae\u201d."},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(00)00326-7"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3664"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0517-5"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569_1991_028_0247_scotph_2.3.co_2"},{"key":"e_1_2_11_18_1","first-page":"118","article-title":"Orofacial Clefts: Improving the Estimates for Global Birth Prevalence and Attributable Mortality","volume":"11","author":"Mossey P.","year":"2023","journal-title":"Global Bioethics Enquiry"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01930.x"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gep.2009.11.002"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108105"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/499164"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70066","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmga.70066","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70066","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T07:09:53Z","timestamp":1779779393000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmga.70066"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,2]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/ajmga.70066"],"URL":"https:\/\/doi.org\/10.1002\/ajmga.70066","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,2]]},"assertion":[{"value":"2025-04-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}