Aicardi–Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
Article first published online: 24 DEC 2001
Volume 56, Issue 2, pages 149–153, August 1999
How to Cite
Fauré, S., Bordelais, I., Marquette, C., Rittey, C., Campos-Castello, J., Goutières, F., Ponsot, G., Weissenbach, J. and Lebon, P. (1999), Aicardi–Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?. Clinical Genetics, 56: 149–153. doi: 10.1034/j.1399-0004.1999.560210.x
- Issue published online: 24 DEC 2001
- Article first published online: 24 DEC 2001
- Received 19 January 1999Accepted 5 May 1999
- homozygosity mapping;
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.