Journal article
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
E Lee, T Le, Y Zhu, G Elakis, A Turner, W Lo, H Venselaar, CA Verrenkamp, N Snow, D Mowat, EP Kirk, R Sachdev, J Smith, NJ Brown, M Wallis, C Barnett, F McKenzie, ML Freckmann, F Collins, M Chopra Show all
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2018
DOI: 10.1038/gim.2017.214
Abstract
Purpose: The craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we report on the use of a massively parallel sequencing panel in individuals with craniosynostosis without a prior molecular diagnosis. Methods: A 20-gene panel was designed based on the genes’ association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene. An additio..
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Funding Acknowledgements
We acknowledge funding provided by the University of New South Wales for laboratory infrastructure, the National Health and Medical Research Council for an overseas fellowship (T.R.), Luke Hesson for critically reviewing the manuscript, and the families and clinicians for their involvement.