Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.

Abstract excerpt

UNLABELLED: Fragile X syndrome characterized by intellectual disability (ID), facial dysmorphism, and postpubertal macroorchidism is the most common monogenic cause of ID. It is typically induced by an expansion of a CGG repeat in the fragile X mental retardation 1 (FMR1) gene on Xq27 to more than 200 repeats. Only rarely patients have atypical mutations in the FMR1 gene such as point mutations, deletions, or...

Topics

• Adolescent
• Biomarkers
• DNA Methylation
• Face
• Fragile X Mental Retardation Protein
• Fragile X Syndrome
• Humans
• Intellectual Disability
• Male
• Mutation
• Pedigree