Inherited <scp>SHQ</scp>1 mutations impair interaction with <scp>NAP</scp>57/dyskerin, a major target in dyskeratosis congenita

Abstract

Intrauterine growth retardation and the neurological phenotype of the patient are reminiscent of the severe clinical variant of DC, the Hoyeraal-Hreidarsson syndrome (HH). Hence, SHQ1 screening may be warranted in patients with inherited bone marrow failure syndromes.