Background to disease

OMIM # 225750

Crow et al. (Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am. J. Hum. Genet. 67: 213-221, 2000) studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutieres syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, calcification of basal ganglia, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genome-wide linkage analysis, a maximum heterogeneity lod score of 5.28 was reached at marker D3S3563, mapping the gene to chromosome 3p21. The data suggested the existence of locus heterogeneity in this syndrome and highlighted potential difficulties in the differentiation of this condition from pseudo-TORCH syndrome.

A gene responsible for Aicardi-Goutières Syndrome has still not been identified. However linkage studies performed by Yanick Crow and his group in 2000 have identified a microsatellite marker (D3S3563) at 3p21 which attained a maximum-heterogeneity LOD score of 5.28, with an a of 0.48 (where a is the proportion of families demonstrating linkage). The data suggested the existence of locus heterogeneity in this syndrome and it is suggested that possibly at least two other loci exist.

Laboratory analysis

Contact scientist: Kimberley Flintoff

	Test	Target reporting time (working days)
1.	7 linked markers at 3p21	10-20