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- DOI: 10.1086/302955
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Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
Crow, YJ, Jackson, A, Roberts, E, van Beusekom, E, Barth, P, Corry, P, Ferrie, C, Hamel, B, Jayatunga, R, Karbani, G, Kálmánchey, R, Kelemen, A, King, M, Kumar, R, Livingstone, J, Massey, R, McWilliam, R, Meager, A, Rittey, C, Stephenson, J, Tolmie, J, Verrips, A, Voit, T, van Bokhoven, H, Brunner, H, Woods, C
Am J Hum Genet. 2000;67( 1):213-21.
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Full-text held externally
- DOI: 10.1086/302955
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.
Keyword(s)
Age of Onset; Child; Child, Preschool; Chromosome Mapping; Diagnosis, Differential; Female; Genetic Heterogeneity; Humans; Infant; Infant, Newborn; Lod Score; Male; Models, Genetic; Pedigree; Syndrome; diagnosis: Abnormalities, Multiple; diagnosis: Brain Damage, Chronic; genetics: Chromosomes, Human, Pair 3; genetics: Genetic Markers