Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21
| Autor: | Andrew P. Jackson, J.H.L.M. van Bokhoven, Aad Verrips, Colin D. Ferrie, R. Kalmanchey, Ben C.J. Hamel, A. Kelemen, C. G. Woods, J. B P Stephenson, Mary D. King, Robert McWilliam, Emma Roberts, R. Jayatunga, A. Meager, E. van Beusekom, J. Livingstone, G. Karbani, Roger F. Massey, Peter Corry, John Tolmie, Christopher D. Rittey, Peter G. Barth, Yanick J. Crow, Han G. Brunner, Ram L. Kumar, Thomas Voit |
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| Přispěvatelé: | Faculteit der Geneeskunde |
| Rok vydání: | 2000 |
| Předmět: |
Genetic Markers
Male Clinical description and delineation of genetic syndromes Pathofysiologie van Hersenen en Gedrag Locus (genetics) Pathophysiology of Brain and Behaviour Biology Rubella Aicardi syndrome Diagnosis Differential Genetic Heterogeneity Locus heterogeneity Genetic linkage Report Genetics medicine Humans Genetics(clinical) Abnormalities Multiple Age of Onset Child Klinische beschrijving en moleculaire definiëring van genetische syndromen Genetics (clinical) Models Genetic Genetic heterogeneity Infant Newborn Chromosome Mapping Infant Syndrome medicine.disease Pedigree Overig onderzoek afdeling Paediatrics Genetic marker Child Preschool Immunology Aicardi–Goutières syndrome Brain Damage Chronic Female Chromosomes Human Pair 3 Lod Score |
| Zdroj: | American Journal of Human Genetics, 67, 213-221 American Journal of Human Genetics, 67, pp. 213-221 American Journal of Human Genetics, 67, 213-221. Cell Press |
| ISSN: | 0002-9297 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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