A New Form of Ectodermal Dysplasia Caused by Mutations in TSPEAR

    April 2016 in “ Journal of Investigative Dermatology ”
    A. Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas‐Volkov, Marina Eskin‐Schwartz, Christopher A. Adase, N. Malchin, Ron Bochner, Gilad Fainberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, C. Luxemburg, Noam Adir, Ivan Goldberg, Richard L. Gallo, Noam Shomron, Ralf Paus, Eli Sprecher
    TLDR Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
    The study identified mutations in the TSPEAR gene in 3 families with a new form of ectodermal dysplasia (ED) characterized by facial dysmorphism, scalp hypotrichosis, body hypertrichosis, and hypodontia. Whole exome sequencing revealed 2 frameshift and 2 missense mutations. The research suggested that abnormal NOTCH signaling was involved, as TSPEAR down-regulation in keratinocytes led to decreased NOTCH1 mRNA and protein levels. This down-regulation also affected genes involved in hair and tooth development, such as TP63 and TGFBR2. In vivo experiments using siRNA to knock down TSPEAR in human and mouse hair follicles showed inhibited hair growth and altered hair keratin expression. The findings indicated that TSPEAR played a critical role in hair and tooth morphogenesis.
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