{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T16:52:37Z","timestamp":1775926357006,"version":"3.50.1"},"reference-count":12,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T00:00:00Z","timestamp":1672358400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100018688","name":"Korea Disease Control and Prevention Agency","doi-asserted-by":"publisher","award":["2021-ER0706-00)"],"award-info":[{"award-number":["2021-ER0706-00)"]}],"id":[{"id":"10.13039\/100018688","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Branchiootorenal (BOR) syndrome is a rare autosomal dominant inherited disease with a prevalence of approximately 1 in 40,000 newborns. This disease is characterized by hearing loss, preauricular pits, branchial fistulas or cysts, and renal dysplasia. We discovered a case of BOR syndrome in a premature 2-week-old female infant with a gestational age of 32 weeks and two days. She and her family had major symptoms and a family history of BOR. BOR syndrome was confirmed by whole-genome sequencing and structural variant calling, which revealed an EYA1 exon 5\u20136 deletion. The infant had recurrent sleep and feeding cyanosis with second branchial anomalies. Via videofluoroscopic swallowing study and a modified barium swallow test, penetration into the vocal cords was observed before and during swallowing when bottle feeding. This is the first report of a preterm infant early diagnosed with BOR syndrome in which deletion margin was accurately identified by whole-genome sequencing and structural variant calling in Republic of Korea.<\/jats:p>","DOI":"10.3390\/children10010076","type":"journal-article","created":{"date-parts":[[2023,1,2]],"date-time":"2023-01-02T04:17:38Z","timestamp":1672633058000},"page":"76","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling"],"prefix":"10.3390","volume":"10","author":[{"given":"Da Hyeon","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Misun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heui Seung","family":"Jo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Seoul 06351, Republic of Korea"},{"name":"Department of Pediatrics, Kangwon University Hospital, Chuncheon-si 24289, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JongHo","family":"Park","sequence":"additional","affiliation":[{"name":"Clinical Genomics Center, Samsung Medical Center, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JaHyun","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1038-029X","authenticated-orcid":false,"given":"Sunghwan","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8885-2990","authenticated-orcid":false,"given":"SeHyung","family":"Son","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CHA Ilsan Medical Center, Goyang-si 10414, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1177\/000348946307200221","article-title":"XLII The Otologist and First Branchial Cleft Anomalies","volume":"72","author":"Work","year":"1963","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1111\/j.1399-0004.1976.tb01546.x","article-title":"Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes","volume":"9","author":"Melnick","year":"1976","journal-title":"Clin. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/ajmg.1320020305","article-title":"Genetic aspects of the BOR syndrome\u2014Branchial fistulas, ear pits, hearing loss, and renal anomalies","volume":"2","author":"Fraser","year":"1978","journal-title":"Am. J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/ajmg.1320070316","article-title":"Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss","volume":"7","author":"Fraser","year":"1980","journal-title":"Am. J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1002\/humu.20048","article-title":"Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences","volume":"23","author":"Chang","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"bcr0320091719","DOI":"10.1136\/bcr.03.2009.1719","article-title":"Branchio-oto-renal syndrome with obstructive sleep apnoea","volume":"2012","author":"Chavan","year":"2012","journal-title":"BMJ Case Rep."},{"key":"ref_7","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J., Gripp, K.W., Mirzaa, G.M., and Amemiya, A. (2022, December 26). GeneReviews\u00ae. 1993\u20132022, Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1380\/."},{"key":"ref_8","unstructured":"Jones, K.L., Jones, M.C., and Del Campo, M. (2013). Smith\u2019s Recognizable Patterns of Human Malformation: Elsevier Health Sciences, Saunders."},{"key":"ref_9","first-page":"2854","article-title":"HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome","volume":"152","author":"Wang","year":"2010","journal-title":"Am. J. Med Genet. Part A"},{"key":"ref_10","first-page":"431","article-title":"The role of the hyoid bone during the swallowing process","volume":"28","author":"Guo","year":"2014","journal-title":"Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"5561","DOI":"10.1242\/dev.01437","article-title":"EYA1 and SIX1 are essential for early steps of sensory neurogenesis in mammalian cranial placodes","volume":"131","author":"Zou","year":"2004","journal-title":"Development"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1177\/014556139507400611","article-title":"Familial bilateral branchial cleft cysts","volume":"74","author":"Clevens","year":"1995","journal-title":"Ear Nose Throat J."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/1\/76\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:56:37Z","timestamp":1760147797000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/1\/76"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,30]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,1]]}},"alternative-id":["children10010076"],"URL":"https:\/\/doi.org\/10.3390\/children10010076","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,30]]}}}