DOI: 10.1101/483362Dec 4, 2018Paper

Somatic uniparental disomy with a rare EFL1 variant causes Shwachman-Diamond syndrome through dysregulating ribosomal protein synthesis

BioRxiv : the Preprint Server for Biology
Sangmoon LeeMurim Choi


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.

Related Concepts

Bone Marrow
Ribosomal Proteins
Shwachman Syndrome
Protein Biosynthesis
Molecular Assembly/Self Assembly
Uniparental Disomy

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