SI-125, 214, SI-“TL”: (FMR1) Fragile Site Mental Retardation 1
• Cell line states:
o SI-125: carrier
o SI-214: affected male
o SI-“TL”: full mutation carrier (N/expansion)
• Defects in FMR1 are the cause of fragile X syndrome. [MIM:300624]. It is a common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region