{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T11:27:37Z","timestamp":1751628457906,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,8]],"date-time":"2020-09-08T00:00:00Z","timestamp":1599523200000},"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":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebellofaciodental syndrome (MIM #616202) is an autosomal recessive condition characterized by intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features, and short stature. To date, eight patients carrying biallelic <jats:italic>BRF1<\/jats:italic> variants have been reported. Here, we describe two siblings with congenital microcephaly and corpus callosum hypoplasia, pre and postnatal growth retardation, congenital heart defect and severe global developmental delay. We also detected additional findings not previously reported in this syndrome, including bilateral sensorineural hearing impairment and inner ear malformation. Whole exome sequencing identified a novel homozygous missense variant (c.654G&gt;C, p.[Trp218Cys]) in <jats:italic>BRF1<\/jats:italic>, predicted to affect the protein structure. Expression assessment showed extremely low BRF1 protein expression caused by the identified variant, supporting its causal involvement. The description of new patients with cerebellofaciodental syndrome is essential to better delineate the phenotypic and genotypic spectrum of the disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.61839","type":"journal-article","created":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T15:44:37Z","timestamp":1601048677000},"page":"2742-2745","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Expanding the phenotype of cerebellar\u2010facial\u2010dental syndrome: Two siblings with a novel variant in <scp><i>BRF1<\/i><\/scp>"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2350-6058","authenticated-orcid":false,"given":"Irene","family":"Valenzuela","sequence":"first","affiliation":[{"name":"Department of Clinical and Molecular Genetics Vall d'Hebron University Hospital  Barcelona Spain"},{"name":"Medicine Genetics Group, Vall d'Hebron Research Institute  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Codina","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics Vall d'Hebron University Hospital  Barcelona Spain"},{"name":"Medicine Genetics Group, Vall d'Hebron Research Institute  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Fern\u00e1ndez\u2010\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics Vall d'Hebron University Hospital  Barcelona Spain"},{"name":"Medicine Genetics Group, Vall d'Hebron Research Institute  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pilar","family":"Mur","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat  Barcelona 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