Novel clinical and genetic insights into dysfunction of the ASC-1 complex
These findings were presented at the ASHG 2018.
ASC-1 complex mutations in severe neuromuscular disorders
The transcriptional coactivator ASC-1 complex is composed of four subunits ASC-1 (TRIP4), ASCC1 (ASCC1), ASCC2 (ASCC2) and ASCC3 (ASCC 3). Homozygous variants in TRIP4 (n=4 families) and in ASCC1 (n=4 families) were recently associated with Spinal muscular atrophy with congenital bone fractures 1 and 2. We present new findings in support of ASC-1 complex-related disease:
- Identification of novel TRIP4 and ASCC1 variants
- Description of four new families with ASC-1 neuromuscular disease
- Disease severity in correlation with mutated subunits and transcriptional consequences