Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita

ConclusionIntrauterine 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. We describe the first inherited patient mutations in SHQ1 and their impact on SHQ1 interaction with NAP57/dyskerin, the major target in the bone marrow failure syndrome dyskeratosis congenita.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fmgg3.314

Source: Molecular Genetics & Genomic Medicine - July 1, 2017 Category: Genetics & Stem Cells Authors: Jonathan Bizarro, U. Thomas Meier Tags: Case Report Source Type: research

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