Autism Research Today is a free monthly online journal that collates and summarizes the latest research about Autism, including details on symptoms, diagnosis, treatment, causes, effects. | ||||||||
|
A case of autism and uniparental disomy of chromosome 1.Wassink TH, Losh M, Frantz RS, Vieland VJ, Goedken R, Piven J, Sheffield VC Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. thomas-wassink@uiowa.edu 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. Published 20 June 2005 in Hum Genet, 117(2): 200-6.
© 2004-2008 Autism Research Today. All Rights Reserved. |
| ||||||
