Autistic spectrum disorder and the fragile X premutation.
Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.
Goodlin-Jones
Beth L
BL
M.I.N.D. Institute, Department of Psychiatry and Behavioral Sciences, UCDHS, Sacramento, California 95817, USA. blgodlinjones@ucdavis.edu
Tassone
Flora
F
Gane
Louise W
LW
Hagerman
Randi J
RJ
D000328:Adult; D001321:Autistic Disorder / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000097:blood / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology; D008297:Male; D008403:Mass Screening; D009419:Nerve Tissue Proteins / Q000097:blood / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016601:RNA-Binding Proteins / Q000097:blood / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D011795:Surveys and Questionnaires
D018076:DNA, Complementary; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human