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

摘要: Objective: Fragile X syndrome (FXS) and tuberous sclerosis (TSC) are genetic disorders that result in intellectual disability an increased prevalence of autism spectrum (ASD). While the clinical presentation each disorder is distinct, molecular causes linked to a disruption mTORC1 (mammalian Target Rapamycin Complex 1) ERK1/2 (Extracellular signal- Regulated Kinase) signaling pathways. Methods: We assessed characteristics individual seen at UC Davis MIND Institute with diagnosis FXS TSC. Clinical evaluation physical, behavioral, cognitive impairments were performed. Additionally, total phosphorylated proteins along pathways measured primary fibroblast cell lines from proband. Results: In this case phenotypic effects human both TSC shown be severe. Changes global protein synthesis not found noticeably different between four cohorts (typically developing, FMR1 full mutation, mutation TSC1 loss function mutation); however cohort sizes prevented stringent comparisons. Conclusion: It has previously been suggested pathway was reciprocal double knock-out mouse models so regulation these more similar wild-type mice compared harboring Fmr1-/y or Tsc2-/+ alone. However, first reported TSC, substantial impairments, as two observed. Differences mTORC clearly established when individuals either disorder, both.