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Am J Hum Genet. 2000 Jul;67(1):213-21. Epub 2000 May 25.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

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1
Molecular Medicine Unit, Clinical Sciences Building, St. James's University Hospital, Leeds, United Kingdom. ycrow@hgmp.mrc.ac.uk

Abstract

We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of 5.28 was reached at marker D3S3563, with alpha=.48, where alpha is the proportion of families showing linkage. Our data suggest the existence of locus heterogeneity in Aicardi-Goutières syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome.

PMID:
10827106
PMCID:
PMC1287108
DOI:
10.1086/302955
[Indexed for MEDLINE]
Free PMC Article
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