title: Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
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.
authors.affiliation: Molecular Medicine Unit, Clinical Sciences Building, St. James's University Hospital, Leeds, United Kingdom. ycrow@hgmp.mrc.ac.uk
authors.forename: Y J
authors.initials: YJ
authors.lastname: Crow
authors.forename: A P
authors.initials: AP
authors.lastname: Jackson
authors.forename: E
authors.initials: E
authors.lastname: Roberts
authors.forename: E
authors.initials: E
authors.lastname: van Beusekom
authors.forename: P
authors.initials: P
authors.lastname: Barth
authors.forename: P
authors.initials: P
authors.lastname: Corry
authors.forename: C D
authors.initials: CD
authors.lastname: Ferrie
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: R
authors.initials: R
authors.lastname: Jayatunga
authors.forename: G
authors.initials: G
authors.lastname: Karbani
authors.forename: R
authors.initials: R
authors.lastname: Kálmánchey
authors.forename: A
authors.initials: A
authors.lastname: Kelemen
authors.forename: M
authors.initials: M
authors.lastname: King
authors.forename: R
authors.initials: R
authors.lastname: Kumar
authors.forename: J
authors.initials: J
authors.lastname: Livingstone
authors.forename: R
authors.initials: R
authors.lastname: Massey
authors.forename: R
authors.initials: R
authors.lastname: McWilliam
authors.forename: A
authors.initials: A
authors.lastname: Meager
authors.forename: C
authors.initials: C
authors.lastname: Rittey
authors.forename: J B
authors.initials: JB
authors.lastname: Stephenson
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: A
authors.initials: A
authors.lastname: Verrips
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: H
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: C G
authors.initials: CG
authors.lastname: Woods
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D017668:Age of Onset; D001925:Brain Damage, Chronic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D013577:Syndrome
chemical_list: D005819:Genetic Markers