A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome

Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla-Vallmanya, Laura; Tonda, Raúl; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana

A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome

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dc.contributor.author Urreizti, Roser
dc.contributor.author Damanti, Sarah
dc.contributor.author Esteve, Carla
dc.contributor.author Franco Valls, Héctor
dc.contributor.author Castilla-Vallmanya, Laura
dc.contributor.author Tonda, Raúl
dc.contributor.author Cormand, Bru
dc.contributor.author Vilageliu, Lluïsa
dc.contributor.author Opitz, John M.
dc.contributor.author Neri, Giovanni
dc.contributor.author Grinberg, Daniel
dc.contributor.author Balcells, Susana
dc.date.accessioned 2019-12-10T08:42:20Z
dc.date.available 2019-12-10T08:42:20Z
dc.date.issued 2018
dc.description.abstract De 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.
dc.description.sponsorship The authors thank the patient and his family for wholehearted collaboration. They are also grateful to M. Cozar for technical assistance, and to CNAG for exome sequencing within the “300 exomes to elucidate rare diseases” program. Funding was from Associació Síndrome Opitz C, Terrassa, Spain; Spanish Ministerio de Economía y Competitividad (SAF2014-56562-R; SAF2016-75948-R, FECYT, crowdfunding PRECIPITA); ISCIII Ministerio de Economía y Competitividad (PT13/0001/0044), Catalan Government (2014SGR932) and from CIBERER (U720).
dc.format.mimetype application/pdf
dc.identifier.citation Urreizti 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/s41598-017-19109-9
dc.identifier.doi http://dx.doi.org/10.1038/s41598-017-19109-9
dc.identifier.issn 2045-2322
dc.identifier.uri http://hdl.handle.net/10230/43127
dc.language.iso eng
dc.publisher Nature Research
dc.relation.ispartof Scientific Reports. 2018;8(1):694
dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/SAF2014-56562-R
dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/SAF2016-75948-R
dc.rights © 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/.
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.keyword Genetics research
dc.subject.keyword Molecular medicine
dc.title A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome
dc.type info:eu-repo/semantics/article
dc.type.version info:eu-repo/semantics/publishedVersion

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