Article
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
EBioMedicine - 1 Dec 2024
Li Chia-Yi, Chen Li-Wen, Tsai Meng-Che, Chou Yen-Yin, Lin Pei-Xuan, Chang Yu-Ming, Hwu Wuh-Liang, Chien Yin-Hsiu, Lin Ju-Li, Chen Hui-An, Lee Ni-Chung, Su Pen-Hua, Hsieh Tzung-Chien, Klinkhammer Hannah, Wang Yi-Chieh, Huang Yi-Ting, Krawitz Peter M, Lin Sheng-Hsiang, Huang Lynn L H, Chiang Po-Min, Shih Min-Hsiu, Chen Peng-Chieh
Abstract excerpt
BACKGROUND: Impaired mitochondrial protein import machinery leads to phenotypically heterogeneous diseases. Here, we report a recurrent homozygous missense variant in the gene that encodes the translocase of outer mitochondrial membrane 7 (TOMM7) in nine patients with microcephaly, short stature, facial dysmorphia, atrophic macular scarring, and moyamoya disease from seven unrelated families. METHODS: To prove...
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