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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.

journal_name

Hum Genet

journal_title

Human genetics

authors

Wassink TH,Losh M,Frantz RS,Vieland VJ,Goedken R,Piven J,Sheffield VC

doi

10.1007/s00439-005-1257-4

keywords:

subject

Has Abstract

pub_date

2005-07-01 00:00:00

pages

200-6

issue

2-3

eissn

0340-6717

issn

1432-1203

journal_volume

117

pub_type

杂志文章

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