A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

ABSTRACT:

Background

Aicardi-Goutières syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal fluid lymphocytosis, and negative serological investigations for common prenatal infections. AGS may result from a perturbation of interferon alpha metabolism. The disorder is genetically heterogeneous with approximately 50% of families mapping to the first known locus at 3p21 (AGS1).

Methods

A genome-wide scan was performed in 10 families with a clinical diagnosis of AGS in whom linkage to AGS1 had been excluded. Higher density genotyping in regions of interest was also undertaken using the 10 mapping pedigrees and seven additional AGS families.

Results

Our results demonstrate significant linkage

SUBMITTER: Ali M 

PROVIDER: S-EPMC2649012 | biostudies-literature | 2006 May

REPOSITORIES: biostudies-literature