In a recent work by Nachmani and colleagues [86], germline mutations of the npm1 gene have been associated with the etiogenesis of the ribosomopathy dyskeratosis congenita: these lesions consist of a missense mutation or an in-frame-deletion within the A3 acidic region of NPM1 (see next paragraph) [86]. Here, NPM1 is linked to dyskeratosis congenita.