TAF8 mutations cause a neurodegenerative disorder
A new study published in Brain identified three variants in the gene coding for TAF8 (part of the complexe involved in RNA polymerase, within 7 individuals (including 2 siblings) who express severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Complementary researches related to atrophy (cerebral imaging, magnetic resonance spectroscopy), and review of the literature, might indicate a specific vulnerability of neuronal tissue to widespread deregulation of gene expression as also seen in Rett syndrome or Cornelia de Lange syndrome.
- Brain . 2022 Sep 14;145(9):3022-3034