A novel cause of DKC1-related bone marrow failure: Partial deletion of the 3' untranslated region.

ABSTRACT: Telomere biology disorders (TBDs), including dyskeratosis congenita (DC), are a group of rare inherited diseases characterized by very short telomeres. Mutations in the components of the enzyme telomerase can lead to insufficient telomere maintenance in hematopoietic stem cells, resulting in the bone marrow failure that is characteristic of these disorders. While an increasing number of genes are being linked to TBDs, the causative mutation remains unidentified in 30-40% of patients with DC. There is therefore a need for whole genome sequencing (WGS) in these families to identify novel genes, or mutations in regulatory regions of known disease-causing genes. Here we describe a family in which a partial deletion of the 3' untranslated region (3' UTR) of DKC1, encoding the protein dys

SUBMITTER: Arthur JW 

PROVIDER: S-EPMC9175968 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature