{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T17:53:18Z","timestamp":1775929998186,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T00:00:00Z","timestamp":1643241600000},"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":[[2022,5]]},"abstract":"Abstract<\/jats:title>Beaulieu\u2010Boycott\u2010Innes syndrome (BBIS; MIM#613680<\/jats:ext-link>) is a rare, autosomal recessive neurodevelopmental genetic disorder associated with pathogenic variants in the THOC6<\/jats:italic> gene (*615403). Intellectual disability, dysmorphic facial features, developmental delay, structural cardiac and genitourinary anomalies, and dental caries are suggestive findings of the syndrome. Exome sequencing (ES) may facilitate the diagnosis of this syndrome, whose clinical features can be nonspecific. Here we report a BBIS patient with a homozygous truncating variant (NM_024339.5:c.299G>A; p.Trp100Ter) in the THOC6<\/jats:italic> gene, diagnosed by ES analysis. The patient's variant is novel and some features such as clivus dysplasia, occult spina bifida, tapered fingers, and upturned fleshy earlobes have not been reported in the literature before. This new case report will expand the knowledge of BBIS and provide more information about the genetic variants and phenotypic spectrum. Also, new cases with THOC6<\/jats:italic> variants will define the core clinical features and common phenotypes of the BBIS over time.<\/jats:p>","DOI":"10.1002\/ajmg.a.62667","type":"journal-article","created":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T11:41:23Z","timestamp":1643283683000},"page":"1568-1571","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A truncating variant in the THOC6<\/i><\/scp> gene with new findings in a patient with Beaulieu\u2010Boycott\u2010Innes<\/scp> syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7317-2717","authenticated-orcid":false,"given":"Asl\u0131han","family":"Kiraz","sequence":"first","affiliation":[{"name":"Medical Genetics Department Kayseri City Education and Research Hospital Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filiz","family":"Tuba\u015f","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Pediatrics Department Erciyes University Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Turgut","family":"Seber","sequence":"additional","affiliation":[{"name":"Radiology Department Kayseri City Education and Research Hospital Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,27]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40534"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12793"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-62"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103742"},{"key":"e_1_2_5_6_1","first-page":"312","article-title":"Proteinuria in two sisters with Beaulieu\u2010Boycott\u2010Innes syndrome, a case report","volume":"14","author":"Hassanvand Amouzadeh M.","year":"2020","journal-title":"Iranian Journal of Kidney Diseases"},{"key":"e_1_2_5_7_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Lemire G.","year":"2020"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy391"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-98646-w"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"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.62667","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62667","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62667","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T09:26:49Z","timestamp":1692955609000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62667"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,27]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/ajmg.a.62667"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62667","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,27]]},"assertion":[{"value":"2021-10-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}