Eur J Hum Genet 2020 08 18;28(8):1044-1055. Epub 2020 Feb 18.
Unité de Génétique Chromosomique ou Cytogénétique, Centre Hospitalier Universitaire de Nantes, Nantes, France.
Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, and contractures. In 2014, ZBTB20 variants were identified as responsible for this syndrome. Indeed, ZBTB20 plays an important role in cognition, memory, learning processes, and has a transcription repressive effect on numerous genes. Read More