Journal article
A case of autism and uniparental disomy of chromosome 1
Human genetics, Vol.117(2), pp.200-206
07/2005
DOI: 10.1007/s00439-005-1257-4
PMID: 15887000
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.
Details
- Title: Subtitle
- A case of autism and uniparental disomy of chromosome 1
- Creators
- Thomas Wassink - Department of Psychiatry, Carver College of Medicine University of Iowa Iowa City IA 52242 USAMolly Losh - Neurodevelopmental Disorders Research Center and Department of Psychiatry University of North Carolina Chapel Hill N.C. USARebecca Frantz - Department of Psychiatry, Carver College of Medicine University of Iowa Iowa City IA 52242 USAVeronica Vieland - Program in Public Health Genetics, College of Public Health University of Iowa Iowa City IA 52242 USARhinda Goedken - Center for Statistical Genetics Research, College of Public Health and Carver College of Medicine University of Iowa Iowa City IA 52242 USAJoseph Piven - Neurodevelopmental Disorders Research Center and Department of Psychiatry University of North Carolina Chapel Hill N.C. USAVal Sheffield - Department of Pediatrics and the Howard Hughes Medical Institute, Carver College of Medicine University of Iowa Iowa City IA 52242 USA
- Resource Type
- Journal article
- Publication Details
- Human genetics, Vol.117(2), pp.200-206
- DOI
- 10.1007/s00439-005-1257-4
- PMID
- 15887000
- NLM abbreviation
- Hum Genet
- ISSN
- 0340-6717
- eISSN
- 1432-1203
- Publisher
- Springer-Verlag; Berlin/Heidelberg
- Language
- English
- Date published
- 07/2005
- Academic Unit
- Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984003990202771
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