{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T11:28:18Z","timestamp":1751628498120,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,7,14]],"date-time":"2024-07-14T00:00:00Z","timestamp":1720915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100022963","name":"Key Research and Development Program of Zhejiang Province","doi-asserted-by":"publisher","award":["2023C03003"],"award-info":[{"award-number":["2023C03003"]}],"id":[{"id":"10.13039\/100022963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebellofaciodental syndrome characterized with dysmorphic features, intellectual disability, and brain anomalies. Now its clinical spectrum expanded more manifestations including bilateral sensorineural hearing impairment and inner ear malformation. Here, we report a 14\u2010month\u2010old boy with global developmental delay and hearing disorder. Whole exome sequencing (WES) revealed the compound heterozygous variants [NM_001519.4: c.652\u2009T\u2009&gt;\u2009G (p.W218G); c.915\u2009+\u20091G\u2009&gt;\u2009T] in the <jats:italic>BRF1<\/jats:italic> gene which inherited from his parents, respectively. The MRI results showed hypoplastic cerebellar vermis, enlarged cisterna magna, and prominent fourth ventricle, the rehabilitation therapy failed to improve the symptoms for our patient. Our finding expands the genetic spectrum of <jats:italic>BRF1<\/jats:italic> variants, which indicates patients with the developmental delay caused by <jats:italic>BRF1<\/jats:italic> variants require other treatments instead of rehabilitation.<\/jats:p>","DOI":"10.1002\/jdn.10365","type":"journal-article","created":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T06:38:53Z","timestamp":1721025533000},"page":"679-687","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of novel variants in <i>BRF1<\/i> gene from patient with developmental delay, hearing abnormality, and nervous system anomalies"],"prefix":"10.1002","volume":"84","author":[{"given":"Hongwei","family":"Yin","sequence":"first","affiliation":[{"name":"Department of Rehabilitation, Children's Hospital, Zhejiang University School of Medicine National Clinical Research Center for Child Health  Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonglin","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, Children's Hospital, Zhejiang University School of Medicine National Clinical Research Center for Child Health  Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3581-7175","authenticated-orcid":false,"given":"Yingying","family":"Shen","sequence":"additional","affiliation":[{"name":"Affiliated Xiaoshan Hospital Hangzhou Normal University  Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv506"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176925.114"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.6.10.1940"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0403851101"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62140"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12887"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2017.06.003"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku411"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1018902"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks1042"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61839"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1017\/s0031182015001122"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3001"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10365","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T07:17:34Z","timestamp":1731050254000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,14]]},"references-count":15,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/jdn.10365"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10365","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"type":"print","value":"0736-5748"},{"type":"electronic","value":"1873-474X"}],"subject":[],"published":{"date-parts":[[2024,7,14]]},"assertion":[{"value":"2024-05-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}