A case of autism and uniparental disomy of chromosome 1

Thomas H. Wassink*, Molly Losh, Rebecca S. Frantz, Veronica J. Vieland, Rhinda Goedken, Joseph Piven, Val C. Sheffield

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)200-206
Number of pages7
JournalHuman Genetics
Issue number2-3
StatePublished - Jul 2005

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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