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    KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

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    Type
    Article
    Authors
    Shamseldin, Hanan E.
    Khalifa, Ola
    Binamer, Yousef M.
    Almutawa, Abdulmonem
    Arold, Stefan T. cc
    Zaidan, Hamad
    Alkuraya, Fowzan S. cc
    KAUST Department
    Biological and Environmental Sciences and Engineering (BESE) Division
    Bioscience Program
    Computational Bioscience Research Center (CBRC)
    Date
    2016-11-12
    Online Publication Date
    2016-11-12
    Print Publication Date
    2017-01
    Permanent link to this record
    http://hdl.handle.net/10754/622158
    
    Metadata
    Show full item record
    Abstract
    Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia disease genes through a regulatory network that maintains the balance between proliferation and differentiation of the epidermis and other ectodermal derivatives. The ectodermal knockout phenotype of five mouse genes that regulate and/or are regulated by TP63 (Irf6, Ikkα, Ripk4, Stratifin, and Kdf1) is strikingly similar and involves abnormal balance towards proliferation at the expense of differentiation, but only the first three have corresponding ectodermal phenotypes in humans. We describe a multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia in which positional mapping and exome sequencing identified a novel variant in KDF1 that fully segregates with the phenotype. The recapitulation of the phenotype we observe in this family by the Kdf1−/− mouse suggests a causal role played by the KDF1 variant.
    Citation
    Shamseldin HE, Khalifa O, Binamer YM, Almutawa A, Arold ST, et al. (2016) KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. Human Genetics. Available: http://dx.doi.org/10.1007/s00439-016-1741-z.
    Sponsors
    We thank the study family for their enthusiastic participation. We also thank the Sequencing and Genotyping Core Facilities at KFSHRC for their technical help. This work was supported by KACST Grant 13-BIO1113-20 (FSA) and King Abdullah University of Science and Technology (KAUST) (STA).
    Publisher
    Springer Nature
    Journal
    Human Genetics
    DOI
    10.1007/s00439-016-1741-z
    Additional Links
    http://link.springer.com/article/10.1007%2Fs00439-016-1741-z
    ae974a485f413a2113503eed53cd6c53
    10.1007/s00439-016-1741-z
    Scopus Count
    Collections
    Articles; Biological and Environmental Sciences and Engineering (BESE) Division; Bioscience Program; Computational Bioscience Research Center (CBRC)

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