Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis.

ABSTRACT:

Objective

Fragile X syndrome (FXS) and tuberous sclerosis (TSC) are genetic disorders that result in intellectual disability and an increased prevalence of autism spectrum disorders (ASD). While the clinical presentation of each disorder is distinct, the molecular causes are linked to a disruption in the mTORC1 (mammalian Target of Rapamycin Complex 1) and ERK1/2 (Extracellular signal-Regulated Kinase) signaling pathways.

Methods

We assessed the clinical and molecular characteristics of an individual seen at the UC Davis MIND Institute with a diagnosis of FXS and TSC. Clinical evaluation of physical, behavioral, and cognitive impairments were performed. Additionally, total and phosphorylated proteins along the mTORC1 and ERK1/2 pathways were measured in primary fibroblast ce

SUBMITTER: Yrigollen CM 

PROVIDER: S-EPMC5319728 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature