Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?

Aicardi–Goutières syndrome (AGS) is a severe progressive familial encephalopathy, which is usually diagnosed shortly after birth. Using the principle of homozygosity mapping, genome‐wide screening of five consanguineous families was performed to search for a homozygous region shared by all affected...

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Bibliographic Details
Published in:Clinical genetics 1999-08, Vol.56 (2), p.149-153
Main Authors: Fauré, Sabine, Bordelais, Isabelle, Marquette, Catherine, Rittey, Chris, Campos-Castello, Jaime, Goutières, Françoise, Ponsot, Gérard, Weissenbach, Jean, Lebon, Pierre
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Aicardi-Goutières
Basal Ganglia - abnormalities
Biological and medical sciences
Consanguinity
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Genes, Recessive
Genotype
heterogeneity
homozygosity mapping
Humans
Interferon-alpha - cerebrospinal fluid
interferon-α
Lymphocytosis - cerebrospinal fluid
Medical sciences
Microcephaly - genetics
Microsatellite Repeats
Multifactorial Inheritance
Neurology
Syndrome
virus
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Summary:Aicardi–Goutières syndrome (AGS) is a severe progressive familial encephalopathy, which is usually diagnosed shortly after birth. Using the principle of homozygosity mapping, genome‐wide screening of five consanguineous families was performed to search for a homozygous region shared by all affected individuals. A total of 364 markers with an average spacing of 9.9 cM were genotyped, but no homozygous region common to all affected individuals could be found. Regions of homozygosity in affected sibs could only be identified within each family individually. This may reflect genetic heterogeneity, possibly related to clinical heterogeneity, since several syndromes are clinically difficult to distinguish from AGS. Involvement of a small number of genes and/or of an external factor, such as infection, may also explain the absence of a homozygous region common to all affected individuals.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.1999.560210.x