RPS6KC1

This website provides information on patients with mutations in the RPS6KC1gene, including clinical data, molecular data, management and research options.

Bi-allelic variants in RPS6KC1cause a condition with a wide range of severity, from prenatal death to a neurodevelopmental disorder in surviving children.

Most patients have developmental delay and intellectual disability, along with early low muscle tone that can progress to spasticity and movement difficulties. Brain MRI typically shows loss of white matter and a thin corpus callosum, often with cerebellar abnormalities.

Common features also include seizures, behavioral issues (such as anxiety and autistic traits), and distinctive facial features. Pregnancy complications (like miscarriages) are frequent, and some patients have additional findings such as eye misalignment or skeletal changes.

Not all individuals with a mutation in the RPS6KC1gene 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 RPS6KC1gene.

Aurora Pujol, MD, PhD, Neurometabolic Diseases Laboratory, IDIBELL, Hospital Duran i Reynals, L’Hospitalet de Llobregat, Barcelona, Spain, apujol@idibell.cat
Agusti Rodriguez-Palmero, MD, PhD, Child Neurologist, Department of Pediatrics. Germans Trias i Pujol University Hospital, Barcelona, Spain, arodriguezpalmero.germanstrias@gencat.cat