TY - JOUR
T1 - A case of autism and uniparental disomy of chromosome 1
AU - Wassink, Thomas H.
AU - Losh, Molly
AU - Frantz, Rebecca S.
AU - Vieland, Veronica J.
AU - Goedken, Rhinda
AU - Piven, Joseph
AU - Sheffield, Val C.
N1 - Funding Information:
Acknowledgements This project was supported by the National Institute of Mental Health (K08-MH62123 to T.H.W., MH55284 and 5U54MH066418-02 to J.P., 5R01MH052841 to V.J.V., and MH55135) and the National Institute of Neurological Disorders and Stroke (5R01NS043550 to T.H.W.). Val Sheffield is an Investigator with the Howard Hughes Medical Institute.
PY - 2005/7
Y1 - 2005/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=26944456372&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=26944456372&partnerID=8YFLogxK
U2 - 10.1007/s00439-005-1257-4
DO - 10.1007/s00439-005-1257-4
M3 - Article
C2 - 15887000
AN - SCOPUS:26944456372
VL - 117
SP - 200
EP - 206
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 2-3
ER -