This website provides information on patients with variants in the ACY3 gene, including clinical data, molecular data, management and research options.
So far, only a single individual with a homozygous mutation in the ACY3 gene has been reported.
That patient presented with microcephaly, seizures, spasticity, brain atrophy.
Not all individuals with a mutation in the ACY3 gene need to have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ACY3 gene.
Jörn Oliver Sass, Professor Dr. rer. nat., Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany, joern.oliver.sass@h-brs.de
Lil Klaas, Scientific associate, Dipl.-Mol. Biomed., Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany, lil.klaas@h-brs.de