{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T06:44:33Z","timestamp":1776321873163,"version":"3.50.1"},"reference-count":11,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:00:00Z","timestamp":1711411200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Foundation of Korea (NRF)","award":["5-20225A0154-00126"],"award-info":[{"award-number":["5-20225A0154-00126"]}]},{"name":"National Research Foundation of Korea (NRF)","award":["2021R1F1A1063568"],"award-info":[{"award-number":["2021R1F1A1063568"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>TRAF7-related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies with developmental delay (CAFDADD) syndrome, as well as blepharophimosis-mental retardation syndrome (BMRS). A 36-year-old male, presenting with total blindness, blepharophimosis, and intellectual disability, was admitted for the assessment of resting dyspnea several months previously. He had a history of being diagnosed with obstructive sleep apnea (OSA). Transesophageal and transthoracic echocardiography unveiled right ventricular dilatation without significant pulmonary hypertension, bicuspid aortic valve with aortic root aneurysm, and aortic regurgitation in the proband. Sanger sequencing identified a de novo TRAF7 variant (c.1964G&gt;A; p.Arg655Gln). Subsequently, aortic root replacement using the Bentall procedure was performed. However, despite the surgery, he continued to experience dyspnea. Upon re-evaluating OSA with polysomnography, it was discovered that continuous positive airway pressure support alleviated his symptoms. The underlying cause of his symptoms was attributed to OSA, likely exacerbated by the vertebral anomaly and short neck associated with CAFDADD syndrome. Clinicians should be attentive to the symptoms associated with OSA as it is a potentially serious medical condition in patients with TRAF7 variants.<\/jats:p>","DOI":"10.3390\/ijms25073701","type":"journal-article","created":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T11:34:58Z","timestamp":1711452898000},"page":"3701","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant"],"prefix":"10.3390","volume":"25","author":[{"given":"Kyung Hee","family":"Kim","sequence":"first","affiliation":[{"name":"Division of Cardiology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4174-5266","authenticated-orcid":false,"given":"Ji Yoon","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7354-4234","authenticated-orcid":false,"given":"Joonhong","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University, Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0308-0021","authenticated-orcid":false,"given":"Jung Sun","family":"Cho","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea"},{"name":"Catholic Research Institute for Intractable Cardiovascular Disease, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ejmg.2007.12.005","article-title":"Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature","volume":"51","author":"Bartholdi","year":"2008","journal-title":"Eur. 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Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1002\/bdr2.1711","article-title":"Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder","volume":"112","author":"Accogli","year":"2020","journal-title":"Birth Defects Res."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"708717","DOI":"10.3389\/fmed.2021.708717","article-title":"Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome with Developmental Delay\u2014New Cases with TRAF7 Variants","volume":"8","author":"Paprocka","year":"2021","journal-title":"Front. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1002\/jcp.24011","article-title":"The seventh ring: Exploring TRAF7 functions","volume":"227","author":"Zotti","year":"2012","journal-title":"J. Cell. Physiol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1007\/s00381-021-05285-7","article-title":"Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: A case report","volume":"38","author":"Chaisrisawadisuk","year":"2022","journal-title":"Childs Nerv. Syst."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1007\/s00439-020-02178-8","article-title":"Second-tier trio exome sequencing after negative solo clinical exome sequencing: An efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders","volume":"139","author":"Moutton","year":"2020","journal-title":"Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1990","DOI":"10.1002\/ajmg.a.63214","article-title":"Novel mosaic TRAF7 likely pathogenic variant in an African American family","volume":"191","author":"Colleran","year":"2023","journal-title":"Am. J. Med. Genet. 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