Article

Mutation in mitochondrial chaperone TRAP1 results in male-specific autism

2023-06-06

Abstract excerpt

There is increasing evidence of mitochondrial dysfunction in autism spectrum disorders (ASD), but the causal relationships are unclear. In an ASD patient whose identical twin was unaffected, we identified a postzygotic mosaic mutation p.Q639* in the TRAP1 gene, which encodes a mitochondrial chaperone of the HSP90 family. Additional screening of 176 unrelated ASD probands revealed an identical TRAP1 variant in a...

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Literature Corpus work: dba6eba2-09bf-5451-b213-c15573944c2d
DOI: 10.1101/2023.06.02.543381

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