Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

ABSTRACT:

Background

Diamond-Blackfan anaemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) characterised by erythroid hypoplasia. It is associated with congenital anomalies and a high risk of developing specific cancers. DBA is caused predominantly by autosomal dominant pathogenic variants in at least 15 genes affecting ribosomal biogenesis and function. Two X-linked recessive genes have been identified.

Objectives

We aim to identify the genetic aetiology of DBA.

Methods

Of 87 families with DBA enrolled in an institutional review board-approved cohort study (ClinicalTrials.gov Identifier:NCT00027274), 61 had genetic testing information available. Thirty-five families did not have a known genetic cause and thus underwent comprehensive genomic evaluation with whole

SUBMITTER: Mirabello L 

PROVIDER: S-EPMC12265046 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature