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Article

Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1.

Gene - 5 Oct 2020

Li Niu, Xu Yufei, Yu Tingting, Yao Ruen, Chen Jing, Luo Chengjuan, Wang Jian

Abstract excerpt

Myb-like SWIRM and MPN domains (MYSM1) is a chromatin-binding transcriptional regulator that mediates histone 2A deubiquitination, which plays a vital role in hematopoiesis and lymphocyte differentiation. Biallelic variants in MYSM1 cause a rare bone marrow failure syndrome (OMIM #618116). To date, only three pathogenic variants (E390*, R478*, and H656R) of MYSM1 have been reported in nine patients, and all...

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PMID: 32640305
DOI: 10.1016/j.gene.2020.144938

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