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

Author

Lee, Sangmoon, Shin, Chang Hoon, Hong, Che Ry, Kim, Jun-Dae, Kim, Ah-Ra, Lee, Jawon, Kokhan, Oleksandr, Yoo, Taekyeong, Sohn, Young Bae, Kim, Ok-Hwa, Ko, Jung Min, Cho, Tae-Joon, Wright, Nathan T., Jin, Suk-Won, Kang, Hyoung Jin, Kim, Hyeon Ho, and Choi, Murim

Subjects
congenital, hereditary, and neonatal diseases and abnormalities
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.

Published
2018
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