Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
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.
Crow
Y J
YJ
Molecular Medicine Unit, Clinical Sciences Building, St. James's University Hospital, Leeds, United Kingdom. ycrow@hgmp.mrc.ac.uk
Jackson
A P
AP
Roberts
E
E
van Beusekom
E
E
Barth
P
P
Corry
P
P
Ferrie
C D
CD
Hamel
B C
BC
Jayatunga
R
R
Karbani
G
G
Kálmánchey
R
R
Kelemen
A
A
King
M
M
Kumar
R
R
Livingstone
J
J
Massey
R
R
McWilliam
R
R
Meager
A
A
Rittey
C
C
Stephenson
J B
JB
Tolmie
J L
JL
Verrips
A
A
Voit
T
T
van Bokhoven
H
H
Brunner
H G
HG
Woods
C G
CG
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
D005819:Genetic Markers