Article
Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance.
Science advances - 1 Apr 2020
Toufektchan Eléonore, Lejour Vincent, Durand Romane, Giri Neelam, Draskovic Irena, Bardot Boris, Laplante Pierre, Jaber Sara, Alter Blanche P, Londono-Vallejo José-Arturo, Savage Sharon A, Toledo Franck
Abstract excerpt
Dyskeratosis congenita is a cancer-prone inherited bone marrow failure syndrome caused by telomere dysfunction. A mouse model recently suggested that p53 regulates telomere metabolism, but the clinical relevance of this finding remained uncertain. Here, a germline missense mutation of MDM4, a negative regulator of p53, was found in a family with features suggestive of dyskeratosis congenita, e.g., bone marrow...
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