Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants

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• dc.contributor.author Souzeau, Emmanuelle
• dc.contributor.author Siggs, Owen M.
• dc.contributor.author Pasutto, Francesca
• dc.contributor.author Knight, Lachlan S. W.
• dc.contributor.author Pérez Jurado, Luis Alberto
• dc.contributor.author McGregor, Lesley
• dc.contributor.author Le Blanc, Shannon
• dc.contributor.author Barnett, Christopher P.
• dc.contributor.author Liebelt, Jan
• dc.contributor.author Craig, Jamie E.
• dc.date.accessioned 2021-01-12T08:28:01Z
• dc.date.available 2021-01-12T08:28:01Z
• dc.date.issued 2020
• dc.description.abstract Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes have never been systematically assessed. Here, 11 facial traits commonly reported in Axenfeld-Rieger syndrome were assessed by five clinical geneticists blinded to the molecular diagnosis. Individuals were drawn from the Australian and New Zealand Registry of Advanced Glaucoma in Australia or recruited through the Genetic and Ophthalmology Unit of l'Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda in Italy. Thirty-four individuals from 18 families were included. FOXC1 variants were present in 64.7% of individuals and PITX2 variants in 35.3% of individuals. A thin upper lip (55.9%) and a prominent forehead (41.2%) were common facial features shared between both genes. Hypertelorism/telecanthus (81.8% vs 25.0%, p = 0.002) and low-set ears (31.8% vs 0.0%, p = 0.036) were significantly more prevalent in individuals with FOXC1 variants compared with PITX2 variants. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.
• dc.format.mimetype application/pdf
• dc.identifier.citation Souzeau E, Siggs OM, Pasutto F, Knight LSW, Perez-Jurado LA, McGregor L, Le Blanc S, Barnett CP, Liebelt J, Craig JE. Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants. Am J Med Genet A. 2021 Feb;185(2):434-9. DOI: 10.1002/ajmg.a.61982
• dc.identifier.doi http://dx.doi.org/10.1002/ajmg.a.61982
• dc.identifier.issn 1552-4825
• dc.identifier.uri http://hdl.handle.net/10230/46135
• dc.language.iso eng
• dc.publisher Wiley
• dc.relation.ispartof Am J Med Genet A. 2021 Feb;185(2):434-9
• dc.rights © 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by-nc/4.0/
• dc.subject.keyword Axenfeld-Rieger syndrome
• dc.subject.keyword FOXC1
• dc.subject.keyword PITX2
• dc.subject.keyword Facial dysmorphism
• dc.title Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion