Citation:
bioRxiv. 2018;[Preprint] doi:10.1101/483362
Abstract:
We present three unrelated Korean Shwachman-Diamond syndrome (SDS) patients that carry an incomplete but identical homozygous EFL1 p.Thr1069Ala variant due to a bone marrow-specific mosaic uniparental disomy (UPD) in chromosome 15. This rare variant is found in 0.017% of East Asians and is asymptomatic in a heterozygous status, but harbors a hypomorphic effect, leading to 80S assembly of ribosomal protein (RP) transcripts. We propose a novel somatically-induced pathogenesis mechanism and EFL1 dysfunction that eventually leads to aberrant translational control and ribosomopathy.
Epub:
Yes
Link to Publication:
https://www.biorxiv.org/content/early/2018/12/04/483362
Organism or Cell Type:
zebrafish
Delivery Method:
microinjection