Neurobehavioural evidence for the involvement of the FMR1 gene in female carriers of fragile X syndrome.
For years, premutation-carriers of fragile X-syndrome (FXS) were assumed free from any deleterious phenotype. In this review, we discuss the current literature on neurocognitive, emotional and neuromotor profiles emerging in females with the fragile-X premutation, and discuss phenotypic profiles in male premutation-carriers to gain insights into possible underlying mechanisms associated with FMR1 gene expression. We contend that this emerging phenotypic profile in females with the fragile-X premutation needs further investigation using experimentally-driven tasks sensitive to neural networks especially vulnerable to FMR1 gene expression. Further investigation of developmental aspects of the female carrier profile is needed to determine the extent to which emotional, cognitive and neurobehavioural challenges indicate at-risk profiles for later degenerative decline, or rather a stable developmental phenotype. These future research avenues will provide critical new information which will enable identification of women at greatest risk for subtle age-dependent neurobehavioural changes well before the onset of more serious clinical consequences alongside the identification of biomarkers which may be useful in establishing the efficacy of future therapeutic interventions.
School of Psychology and Psychiatry, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, VIC 3800, Australia. claudine.kraan@monash.edu
Claudine M
CM
Kraan
Darren R
DR
Hocking
John L
JL
Bradshaw
Joanne
J
Fielding
Jonathan
J
Cohen
Nellie
N
Georgiou-Karistianis
Kim M
KM
Cornish
D000818:Animals; D001519:Behavior / Q000502:physiology*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics* / Q000378:metabolism; D005600:Fragile X Syndrome / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
D051860:Fragile X Messenger Ribonucleoprotein 1