Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, Che Ry Hong, Jun‐Dae Kim, Ahra Kim, Boryeong Park, Soo Jin Son, Oleksandr Kokhan, Taekyeong Yoo, Jae Sung Ko, Young Bae Sohn, Ok-Hwa Kim, Jung Min Ko, , Murim Choi
The paper identifies somatic uniparental disomy in EFL1 as a mechanism that mitigates severe SDS by allowing milder variants to dominate in bone marrow cells.
Blood · Jun 11, 2021Peer-reviewedGenetics