Urreizti, RoserDamanti, SarahEsteve, CarlaFranco Valls, HéctorCastilla-Vallmanya, LauraTonda, RaúlCormand, BruVilageliu, LluïsaOpitz, John M.Neri, GiovanniGrinberg, DanielBalcells, Susana2019-12-102019-12-102018Urreizti R, Damanti S, Esteve C, Franco-Valls H, Castilla-Vallmanya L, Tonda R et al. A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome. Sci Rep. 2018;8(1):694. DOI: 10.1038/s41598-017-19109-92045-2322http://hdl.handle.net/10230/43127De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly. The mutation (c.1428 + 1 G > A) promotes the skipping of exon 16, a frameshift and a premature STOP codon (p.Ala450GLyfs*13), as assessed by a minigene strategy. The patient reported here shares speech difficulties, intellectual disability and autistic features with other FOXP1 syndrome patients, and thus the diagnosis for this patient should be changed. Finally, since trigonocephaly has not been previously reported in FOXP1 syndrome, it remains to be proved whether it may be associated with the FOXP1 mutation.application/pdfeng© The Author(s) 2018. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndromeinfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/s41598-017-19109-9Genetics researchMolecular medicineinfo:eu-repo/semantics/openAccess