{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,10,5]],"date-time":"2024-10-05T04:18:51Z","timestamp":1728101931937},"reference-count":15,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,4]]},"DOI":"10.7759\/cureus.70845","type":"journal-article","created":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T16:15:21Z","timestamp":1728058521000},"source":"Crossref","is-referenced-by-count":0,"title":["Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype"],"prefix":"10.7759","author":[{"given":"Zuhair","family":"Rahbeeni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nabilah","family":"Alwadani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Al-Shehhi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eisa A","family":"Faqeih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarar","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103069","article-title":"WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome","volume":"52","author":"DeSanto C","year":"2015","unstructured":"DeSanto C, D'Aco K, Araujo GC, et al.. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet. 2015, 52:754-61. 10.1136\/jmedgenet-2015-103069","journal-title":"J Med Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62571","article-title":"Extending the phenotype of DeSanto-Shinawi syndrome: a case report and literature review","volume":"188","author":"Ho S","year":"2022","unstructured":"Ho S, Luk HM, Lo IF. Extending the phenotype of DeSanto-Shinawi syndrome: a case report and literature review. Am J Med Genet A. 2022, 188:984-90. 10.1002\/ajmg.a.62571","journal-title":"Am J Med Genet A"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63061","article-title":"Patients with DeSanto-Shinawi syndrome: further extension of phenotype from Italy","volume":"191","author":"Pasquali D","year":"2023","unstructured":"Pasquali D, Torella A, Grandone A, et al.. Patients with DeSanto-Shinawi syndrome: further extension of phenotype from Italy. Am J Med Genet A. 2023, 191:823-30. 10.1002\/ajmg.a.63061","journal-title":"Am J Med Genet A"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000488815","article-title":"DeSanto-Shinawi syndrome: first case in South America","volume":"9","author":"Vanegas S","year":"2018","unstructured":"Vanegas S, Ramirez-Monta\u00f1o D, Candelo E, Shinawi M, Pachajoa H. DeSanto-Shinawi syndrome: first case in South America. Mol Syndromol. 2018, 9:154-8. 10.1159\/000488815","journal-title":"Mol Syndromol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62636","article-title":"Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome","volume":"188","author":"Quental R","year":"2022","unstructured":"Quental R, Gon\u00e7alves D, Rodrigues E, Serrano Gon\u00e7alves E, Oliveira J, Parente Freixo J, Le\u00e3o M. Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome. Am J Med Genet A. 2022, 188:1311-6. 10.1002\/ajmg.a.62636","journal-title":"Am J Med Genet A"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/8820966","article-title":"A case of DeSanto-Shinawi syndrome in Bahrain with a novel mutation","volume":"2020","author":"Alsahlawi Z","year":"2020","unstructured":"Alsahlawi Z, Jailani M, Alaradi H, AlAbbad A. A case of DeSanto-Shinawi syndrome in Bahrain with a novel mutation. Case Rep Pediatr. 2020, 2020:8820966. 10.1155\/2020\/8820966","journal-title":"Case Rep Pediatr"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38703","article-title":"Three patients with DeSanto-Shinawi syndrome: further phenotypic delineation","volume":"176","author":"Uehara T","year":"2018","unstructured":"Uehara T, Ishige T, Hattori S, et al.. Three patients with DeSanto-Shinawi syndrome: further phenotypic delineation. Am J Med Genet A. 2018, 176:1335-40. 10.1002\/ajmg.a.38703","journal-title":"Am J Med Genet A"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.12.010","article-title":"Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants","volume":"30","author":"Alawadhi A","year":"2021","unstructured":"Alawadhi A, Morgan AT, Mucha BE, Scheffer IE, Myers KA. Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. Eur J Paediatr Neurol. 2021, 30:25-8. 10.1016\/j.ejpn.2020.12.010","journal-title":"Eur J Paediatr Neurol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2023.0285","article-title":"The phenotypic spectrum of Desanto-Shinawi syndrome: a comparative report of the first reported case in Turkey","volume":"28","author":"Mail C","year":"2024","unstructured":"Mail C, Yalcintepe S, Eker D, Gurkan H. The phenotypic spectrum of Desanto-Shinawi syndrome: a comparative report of the first reported case in Turkey. Genet Test Mol Biomarkers. 2024, 28:213-7. 10.1089\/gtmb.2023.0285","journal-title":"Genet Test Mol Biomarkers"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3390\/biology12040589","article-title":"Structure-function of the human WAC protein in GABAergic neurons: towards an understanding of autosomal dominant DeSanto-Shinawi syndrome","volume":"12","author":"Rudolph HC","year":"2023","unstructured":"Rudolph HC, Stafford AM, Hwang HE, Kim CH, Prokop JW, Vogt D. Structure-function of the human WAC protein in GABAergic neurons: towards an understanding of autosomal dominant DeSanto-Shinawi syndrome. Biology (Basel). 2023, 12:10.3390\/biology12040589","journal-title":"Biology (Basel)"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1910","article-title":"Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC","volume":"10","author":"Toledo-Gotor C","year":"2022","unstructured":"Toledo-Gotor C, Garc\u00eda-Muro C, Garc\u00eda-Oguiza A, Poch-Oliv\u00e9 ML, Ruiz-Del Prado MY, Dom\u00ednguez-Garrido E. Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC. Mol Genet Genomic Med. 2022, 10:e1910. 10.1002\/mgg3.1910","journal-title":"Mol Genet Genomic Med"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1101\/2024.05.26.595966","article-title":"Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi syndrome","author":"Lee KH","year":"2024","unstructured":"Lee KH, Stafford AM, Pacheco-Vergara M, et al.. Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi syndrome. bioRxiv. 2024, 10.1101\/2024.05.26.595966","journal-title":"bioRxiv"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s11547-018-0861-z","article-title":"Evaluation of symmetrical increased echogenicity of bilateral caudothalamic grooves detected on cranial ultrasonography by comparing with susceptibility-weighted imaging","volume":"123","author":"Dogan MS","year":"2018","unstructured":"Dogan MS, Koc G, Doganay S, Dogan S, \u00d6zdemir A, Korkmaz L, Coskun A. Evaluation of symmetrical increased echogenicity of bilateral caudothalamic grooves detected on cranial ultrasonography by comparing with susceptibility-weighted imaging. Radiol Med. 2018, 123:434-40. 10.1007\/s11547-018-0861-z","journal-title":"Radiol Med"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104534","article-title":"A novel variant of DeSanto-Shinawi syndrome with joint manifestations","volume":"65","author":"Branco J","year":"2022","unstructured":"Branco J, Amorim M, Conde M. A novel variant of DeSanto-Shinawi syndrome with joint manifestations. Eur J Med Genet. 2022, 65:104534. 10.1016\/j.ejmg.2022.104534","journal-title":"Eur J Med Genet"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.154","article-title":"Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion","volume":"57","author":"Okamoto N","year":"2012","unstructured":"Okamoto N, Hayashi S, Masui A, et al.. Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. J Hum Genet. 2012, 57:191-6. 10.1038\/jhg.2011.154","journal-title":"J Hum Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/272080-report-of-desanto-shinawi-syndrome-in-three-boys-with-two-novel-variants-in-the-wac-gene-and-expansion-of-the-phenotype","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T16:15:22Z","timestamp":1728058522000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/272080-report-of-desanto-shinawi-syndrome-in-three-boys-with-two-novel-variants-in-the-wac-gene-and-expansion-of-the-phenotype"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,4]]},"references-count":15,"URL":"https:\/\/doi.org\/10.7759\/cureus.70845","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10,4]]}}}