The FMR1 premutation is of increasing interest to the fragile X syndrome (FXS) community, as questions about a primary premutation phenotype warrant research attention. One hundred FMR1 premutation carrier mothers (mean age = 58; 67 to 138 CGG repeats) of adults with fragile X syndrome were studied with respect to their physical and mental health, and motor and neurocognitive characteristics.
FMR1 Premutation
Leann Smith, PhD
Title: Age at menopause by CGG repeat length Legend: There was a significant curvilinear association between CGG repeat length and age at menopause (b = .003, p < .01). Neither maternal education nor smoking history …
Marsha R. Mailick, PhD
Legend: Fig. 1. Frequency of specific CGG repeat lengths >40 for men and women. Citation: Maenner MJ, Baker MW, Broman KW, Tian J, Barnes JK, Atkins A, McPherson E, Hong J, Brilliant MH, Mailick MR. (2013). …
Fragile X proteins involved in proper neuron development
Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms behind fragile X could make important revelations about the brain.
Merck funds fragile X research at the Waisman Center
Waisman Center investigators Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, were awarded an $750,000 grant, over three years, from the John Merck Fund to explore a new treatment for fragile X syndrome (FXS) using gene …