Targeted gene under study:
OMIM #613933
Abstract
We are currently looking to include patients with bi-allelic variants in ACACA gene. We have already gathered 7 patients presenting global developmental delay and progressive lower limb spasticity along with microcephaly, polymicrogyria and epilepsy. For one of them, we demonstrated decreased protein expression in 3 cell types along with disturbed lipidomic profile and protein acetylation.
In vitro analysis are ongoing to evaluate ACC1 activity in vitro and to elucidate intra-cellular consequences secondary to the metabolic defect.
Coordinating clinicians
Tanguy Demaret, MD, PhD – tanguy.demaret@ipg.be
Isabelle Maystadt, MD, PhD
Institution
Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No, maybe if the pathogenicity of the variant is dubious
3- Linked to a translational/basic research project: Yes (CARD lab, UCLouvain, Brussels, Belgium)