{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:19:12Z","timestamp":1747149552628,"version":"3.40.5"},"reference-count":7,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T00:00:00Z","timestamp":1726704000000},"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":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>SATB2\u2010associated syndrome (SAS) also known as Glass syndrome is characterized by\/intellectual disability and\/or developmental delay coupled with absent or limited speech development. Other abnormalities can be noticed including craniofacial anomalies such as palatal and dental anomalies, behavioural problems and dysmorphic features. It is associated with pathogenic monoallelic variants of the SATB2 gene known to play a key role in brain, dental and jaw development. As phenotype could be unspecific and progressive, clinical diagnostic is difficult. Therefore, genetic testing is mandatory to confirm the disease. Herein, we report clinical and molecular data of a 13\u2010year\u2010old girl with psychomotor developmental delay and behavioural problems.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>Next\u2010generation sequencing detected the novel monoallelic frameshift variant SATB2(NM_001172509.2): c.1135del(p.Gln379Lysfs*34). Currently, this variant is classified as likely pathogenic according to the American College of Medical Genetics. Sanger sequencing was used to validate the presence of the detected variant in the patient and confirm de novo character of this latter.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Through this work, we emphasize the value of next\u2010generation sequencing for a precise molecular diagnosis, an adapted clinical management of patients and an adequate genetic counselling of their families.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jdn.10379","type":"journal-article","created":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T03:09:26Z","timestamp":1726801766000},"page":"1006-1009","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel variant related to <i>SATB2<\/i>\u2010associated syndrome"],"prefix":"10.1002","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3373-2812","authenticated-orcid":false,"given":"Nada","family":"Benyahya","sequence":"first","affiliation":[{"name":"Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat University Mohammed V  Rabat Morocco"},{"name":"Department of Medical Genetics National Institute of Hygiene  Rabat Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2757-5448","authenticated-orcid":false,"given":"Nada","family":"Amllal","sequence":"additional","affiliation":[{"name":"Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat University Mohammed V  Rabat Morocco"},{"name":"Department of Medical Genetics National Institute of Hygiene  Rabat Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7486-0260","authenticated-orcid":false,"given":"Siham Chafai","family":"Elalaoui","sequence":"additional","affiliation":[{"name":"Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat University Mohammed V  Rabat Morocco"},{"name":"Department of Medical Genetics National Institute of Hygiene  Rabat Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7384-558X","authenticated-orcid":false,"given":"Mustapha","family":"El Alloussi","sequence":"additional","affiliation":[{"name":"College of Health Sciences, International Faculty of Dental Medicine, BioMed Unit International University of Rabat  Rabat Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1921-5215","authenticated-orcid":false,"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[{"name":"Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat University Mohammed V  Rabat Morocco"},{"name":"Department of Medical Genetics National Institute of Hygiene  Rabat Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4796-1872","authenticated-orcid":false,"given":"Jaber","family":"Lyahyai","sequence":"additional","affiliation":[{"name":"Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat University Mohammed V  Rabat Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,19]]},"reference":[{"key":"e_1_2_1_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-022-09426-0"},{"key":"e_1_2_1_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.280"},{"key":"e_1_2_1_8_4_1","unstructured":"Garwood B.(n.d.).SATB2 Gene Foundation. [cited 2023 Mar 24]. Home. Available from:https:\/\/satb2gene.org\/"},{"key":"e_1_2_1_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12903-022-02594-4"},{"key":"e_1_2_1_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23771"},{"key":"e_1_2_1_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38022"},{"key":"e_1_2_1_8_8_1","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v9.i21.6081"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10379","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T09:52:29Z","timestamp":1733219549000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,19]]},"references-count":7,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1002\/jdn.10379"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10379","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"type":"print","value":"0736-5748"},{"type":"electronic","value":"1873-474X"}],"subject":[],"published":{"date-parts":[[2024,9,19]]},"assertion":[{"value":"2024-06-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}