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    Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.

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    Author
    Boone, PM; Paterson, S; Mohajeri, K; Zhu, W; Genetti, CA; Tai, DJC; Nori, N; Agrawal, PB; Bacino, CA; Bi, W; ...
    Date
    2020-01
    Source Title
    American Journal of Medical Genetics Part A
    Publisher
    Wiley
    University of Melbourne Author/s
    Hogan, Benjamin; Paterson, Scott
    Affiliation
    Anatomy and Neuroscience
    Sir Peter MacCallum Department of Oncology
    Metadata
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    Document Type
    Journal Article
    Citations
    Boone, P. M., Paterson, S., Mohajeri, K., Zhu, W., Genetti, C. A., Tai, D. J. C., Nori, N., Agrawal, P. B., Bacino, C. A., Bi, W., Talkowski, M. E., Hogan, B. M. & Rodan, L. H. (2020). Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.. Am J Med Genet A, 182 (1), pp.189-194. https://doi.org/10.1002/ajmg.a.61392.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/253833
    DOI
    10.1002/ajmg.a.61392
    Open Access URL
    https://rss.onlinelibrary.wiley.com/doi/am-pdf/10.1002/ajmg.a.61392
    Abstract
    Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, facial dysmorphism, and variable intellectual disability. Known disease genes include CCBE1, FAT4, and ADAMTS3. In a patient with clinically diagnosed Hennekam syndrome but without mutations or copy-number changes in the three known disease genes, we identified a homozygous single-exon deletion affecting FBXL7. Specifically, exon 3, which encodes the F-box domain and several leucine-rich repeats of FBXL7, is eliminated. Our analyses of databases representing >100,000 control individuals failed to identify biallelic loss-of-function variants in FBXL7. Published studies in Drosophila indicate Fbxl7 interacts with Fat, of which human FAT4 is an ortholog, and mutation of either gene yields similar morphological consequences. These data suggest that FBXL7 may be the fourth gene for Hennekam syndrome, acting via a shared pathway with FAT4.

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