A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-09

AUTHORS

Eric Lee, Trang Le, Ying Zhu, George Elakis, Anne Turner, William Lo, Hanka Venselaar, Carol-Ann Verrenkamp, Nicole Snow, David Mowat, Edwin Philip Kirk, Rani Sachdev, Janine Smith, Natasha Jane Brown, Mathew Wallis, Chris Barnett, Fiona McKenzie, Mary-Louise Freckmann, Felicity Collins, Maya Chopra, Nerine Gregersen, Ian Hayes, Sulekha Rajagopalan, Tiong Yang Tan, Zornitza Stark, Ravi Savarirayan, Alison Yeung, Lesley Adès, Michael Gattas, Kate Gibson, Michael Gabbett, David John Amor, Wanda Lattanzi, Simeon Boyd, Eric Haan, Mark Gianoutsos, Timothy Chilton Cox, Michael Francis Buckley, Tony Roscioli

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 additional 76 individuals were tested prospectively. RESULTS: Pathogenic or likely pathogenic variants in non-FGFR genes were identified in 43 individuals, with diagnostic yields of 14% and 15% in retrospective and prospective cohorts, respectively. Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome. Clinically significant variants were also identified in ALX4, EFNA4, ERF, and FGF10. CONCLUSION: These findings support the clinical utility of a massively parallel sequencing panel for craniosynostosis. TCF12 and EFNB1 should be included in genetic testing for nonsyndromic coronal craniosynostosis or clinically suspected Saethre-Chotzen syndrome. More... »

PAGES

1061-1068

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2017.214

DOI

http://dx.doi.org/10.1038/gim.2017.214

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1099723734

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29215649


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512 schema:name Department of Clinical Genetics, Austin Health, Melbourne, Australia
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527 schema:name Genetic Health Service New Zealand, Christchurch Hospital, Christchurch, New Zealand
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539 schema:name Imagine Institute of Genetic Diseases, Paris, France
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541 https://www.grid.ac/institutes/grid.8142.f schema:alternateName Catholic University of the Sacred Heart
542 schema:name Institute of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore, Rome, Italy
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