title: A case of autism and uniparental disomy of chromosome 1.
abstract: We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often associated with autism, including mild mental retardation, small head circumference, hyperactivity, poor fine motor skills, slightly dysmorphic facial features and a heightened interest in olfactory stimulation. His brother, who did not have chromosome 1 UPD, was also autistic. The mother, but not the father, had a history of psychiatric illness and a number of personality and social traits similar to the core features of autism. The discovery of the cytogenetic abnormality was made during the course of a genome-wide linkage screen, wherein genotypes at 6 out of 17 chromosome 1 markers were non-Mendelian and all transmissions were consistent with UPD. Further genotyping (a total of 54 markers) revealed alternating regions of heterodisomy and isodisomy. Whereas chromosome 1 UPD has not been shown to cause disease by effects on imprinting, numerous reports exist of the abnormality unmasking recessive disease-causing mutations. In agreement with this, one of the regions of isodisomy overlaps an emerging chromosome 1 region of interest in autism located at 150-160 Mb.
authors.affiliation: Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. thomas-wassink@uiowa.edu
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Wassink
authors.forename: Molly
authors.initials: M
authors.lastname: Losh
authors.forename: Rebecca S
authors.initials: RS
authors.lastname: Frantz
authors.forename: Veronica J
authors.initials: VJ
authors.lastname: Vieland
authors.forename: Rhinda
authors.initials: R
authors.lastname: Goedken
authors.forename: Joseph
authors.initials: J
authors.lastname: Piven
authors.forename: Val C
authors.initials: VC
authors.lastname: Sheffield
mesh_terms: D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D024182:Uniparental Disomy / Q000235:genetics* / Q000473:pathology
chemical_list: D005819:Genetic Markers