{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T16:52:36Z","timestamp":1775926356991,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T00:00:00Z","timestamp":1603497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Branchio\u2010oto\u2010renal spectrum disorder (BORSD) is a rare autosomal dominant condition characterized by ear abnormalities with hard of hearing\/deafness, second branchial arch malformations and renal anomalies. Pathogenic variations in <jats:italic>EYA1<\/jats:italic> gene are found in the majority of clinically diagnosed individuals with BORSD. We describe an infant with BORSD related to a paternally inherited heterozygous pathogenic variation in <jats:italic>EYA1<\/jats:italic> gene presenting with poor growth and hypoglycemia due to growth hormone deficiency. Magnetic resonance imaging revealed a diminutive pituitary gland and morphologically abnormal sella. Upon initiation of growth hormone therapy, the hypoglycemia resolved and catch up growth ensued. Pituitary abnormalities have not been reported previously in patients with BORSD. The zebrafish ortholog of <jats:italic>eya1<\/jats:italic> is important for the development of adenohypophysis, suggesting that this patient's growth hormone deficiency and pituitary abnormality are part of BORSD. Inclusion of screening for pituitary hormone deficiency and pituitary imaging should be considered as a part of surveillance in patients with BORSD.<\/jats:p>","DOI":"10.1002\/ajmg.a.61942","type":"journal-article","created":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T09:29:31Z","timestamp":1603531771000},"page":"261-266","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Growth hormone deficiency in a child with <scp>branchio\u2010oto\u2010renal<\/scp> spectrum disorder: Clinical evidence of <scp><i>EYA1<\/i><\/scp> in pituitary development and a recommendation for pituitary function surveillance"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1009-6555","authenticated-orcid":false,"given":"Karthik","family":"Muthusamy","sequence":"first","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Hanna","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology and Hypertension Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derek R.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Neurology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carl H.","family":"Cramer","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology and Hypertension Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J.","family":"Tebben","sequence":"additional","affiliation":[{"name":"Divisions of Pediatric Endocrinology and Endocrinology, Diabetes and Metabolism and Nutrition Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon E.","family":"Libi","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2010Head and Neck Surgery Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gayla L.","family":"Poling","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2010Head and Neck Surgery Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan C.","family":"Lanpher","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Biochemistry and Molecular Biology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3154-4249","authenticated-orcid":false,"given":"Lisa A.","family":"Schimmenti","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Otorhinolaryngology\u2010Head and Neck Surgery Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Biochemistry and Molecular Biology Mayo Clinic  Rochester Minnesota USA"},{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,10,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.13.2247"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-157"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20048"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.03.2009.1719"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580413"},{"key":"e_1_2_10_7_1","first-page":"2","article-title":"Unexpected growth patterns in branchio\u2010oto\u2010renal syndrome","volume":"89","author":"Clarkea E.","year":"2018","journal-title":"ESPE Abstracts"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/14992027.2015.1030511"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020305"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31561"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.7.491"},{"issue":"5","key":"e_1_2_10_12_1","first-page":"121","article-title":"Autosomal dominant branchiootorenal dysplasia","volume":"11","author":"Melnick M.","year":"1975","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12357"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.12.036"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/17.6.1014"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100495"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2017.09.027"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004270050270"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33686"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000355436"},{"key":"e_1_2_10_21_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Smith R. J. H.","year":"1993"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.09.005"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0429-8"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.23217"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.560408.x"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.30126"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61942","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61942","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61942","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:04:34Z","timestamp":1693811074000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61942"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,24]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/ajmg.a.61942"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61942","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,24]]},"assertion":[{"value":"2020-08-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}