TY - JOUR
T1 - Identification of expanded alleles of the FMR1 gene in the childhood autism risks from genes and environment (CHARGE) study
AU - Tassone, Flora
AU - Choudhary, Nimrah S.
AU - Tassone, Federica
AU - Durbin-Johnson, Blythe
AU - Hansen, Robin L
AU - Hertz-Picciotto, Irva
AU - Pessah, Isaac N
PY - 2013/3
Y1 - 2013/3
N2 - Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (>200 repeats) in the 5′UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD.
AB - Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (>200 repeats) in the 5′UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD.
KW - Autism spectrum disorder
KW - CGG
KW - Developmental delay
KW - Fragile X
KW - Premutation
KW - Screening
UR - http://www.scopus.com/inward/record.url?scp=84879501996&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84879501996&partnerID=8YFLogxK
U2 - 10.1007/s10803-012-1580-2
DO - 10.1007/s10803-012-1580-2
M3 - Article
C2 - 22767137
AN - SCOPUS:84879501996
VL - 43
SP - 530
EP - 539
JO - Journal of Autism and Developmental Disorders
JF - Journal of Autism and Developmental Disorders
SN - 0162-3257
IS - 3
ER -