Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/130083
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Type: | Journal article |
Title: | Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants |
Author: | Souzeau, E. Siggs, O.M. Pasutto, F. Knight, L.S.W. Perez-Jurado, L.A. McGregor, L. Le Blanc, S. Barnett, C.P. Liebelt, J. Craig, J.E. |
Citation: | American Journal of Medical Genetics Part A, 2020; 185(2):434-439 |
Publisher: | Wiley |
Issue Date: | 2020 |
ISSN: | 0148-7299 1552-4833 |
Statement of Responsibility: | Emmanuelle Souzeau, Owen M. Siggs, Francesca Pasutto, Lachlan S. W. Knight, Luis A. Perez‐Jurado ... Christopher P. Barnett ... et al. |
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. |
Keywords: | Axenfeld-Rieger syndrome FOXC1 PITX2 facial dysmorphism |
Description: | First published: 24 November 2020 |
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. |
DOI: | 10.1002/ajmg.a.61982 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/1116360 http://purl.org/au-research/grants/nhmrc/1154824 |
Published version: | http://dx.doi.org/10.1002/ajmg.a.61982 |
Appears in Collections: | Aurora harvest 4 Genetics publications |
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hdl_130083.pdf | 2.51 MB | Adobe PDF | View/Open |
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