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Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay.

Journal of human genetics - 1 Mar 2020

Wei Xiujuan, Du Miaomiao, Xie Jie, Luo Ting, Zhou Yan, Zhang Kun, Li Jin, Chen Deyu, Xu Pu, Jia Manli, Zhou Huaibin, Fang Hezhi, Lyu Jianxin, Yang Yanling

Abstract excerpt

TOM70 is a member of the TOM complex that transports cytosolic proteins into mitochondria. Here, we identified two compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)] from a patient with severe anemia, lactic acidosis, and developmental delay. Patient-derived immortalized lymphocytes showed decreased TOM70 expression, oligomerized TOM70 complex, and TOM 20/22/40 complex compared...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31907385
DOI: 10.1038/s10038-019-0714-1

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