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

    Author(s)
    Lee, Eric
    Le, Trang
    Zhu, Ying
    Elakis, George
    Turner, Anne
    Lo, William
    Venselaar, Hanka
    Verrenkamp, Carol-Ann
    Snow, Nicole
    Mowat, David
    Kirk, Edwin Philip
    Sachdev, Rani
    Smith, Janine
    Brown, Natasha Jane
    Wallis, Mathew
    Barnett, Chris
    McKenzie, Fiona
    Freckmann, Mary-Louise
    Collins, Felicity
    Chopra, Maya
    Gregersen, Nerine
    Hayes, Ian
    Rajagopalan, Sulekha
    Tan, Tiong Yang
    Stark, Zornitza
    Savarirayan, Ravi
    Yeung, Alison
    Ades, Lesley
    Gattas, Michael
    Gibson, Kate
    Gabbett, Michael
    Amor, David John
    Lattanzi, Wanda
    Boyd, Simeon
    Haan, Eric
    Gianoutsos, Mark
    Cox, Timothy Chilton
    Buckley, Michael Francis
    Roscioli, Tony
    Griffith University Author(s)
    Gabbett, Michael T.
    Year published
    2018
    Metadata
    Show full item record
    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 ...
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    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.
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    Journal Title
    Genetics in Medicine
    Volume
    20
    Issue
    9
    DOI
    https://doi.org/10.1038/gim.2017.214
    Subject
    Genetics
    Clinical Sciences
    Publication URI
    http://hdl.handle.net/10072/384595
    Collection
    • Journal articles

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