Aicardi-Goutieres Syndrome is a rare genetic neurological disorder with variable clinical manifestations including infantile spasms-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities. It usually manifests as early-onset encephalopathy resulting in severe intellectual and physical disability. Genetic diagnosis is crucial due to the overlapping phenotypic features with sequelae of congenital infection and systemic lupus erythematosus (SLE). Given the phenotypic heterogeneity and diagnostic difficulties associated with young children, Aicardi-Goutieres syndrome may be a more frequent cause of mental retardation and seizure in girls than previously thought. Complications of this syndrome include severe mental retardation, intractable epilepsy and pulmonary complications. It is typically inherited in an autosomal recessive pattern.
The Igenomix Aicardi-Goutieres Precision Panel can serve as an accurate and directed diagnostic tool as well as a differential diagnosis for early-onset encephalopathy ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved, and their high or intermediate penetrance.
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The clinical utility of this panel is:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
|
ADAR |
Aicardi-Goutieres Syndrome, |
AD,AR |
99.93 |
252 of 252 |
|
IFIH1 |
Aicardi-Goutieres Syndrome, |
AD |
99.62 |
26 of 27 |
|
RNASEH2A |
Aicardi-Goutieres |
AR |
100 |
23 of 23 |
|
RNASEH2B |
Aicardi-Goutieres |
AR |
99.95 |
41 of 41 |
|
RNASEH2C |
Aicardi-Goutieres |
AR |
100 |
14 of 14 |
|
SAMHD1 |
Aicardi-Goutieres |
AD,AR |
100 |
51 of 51 |
|
TREX1 |
Aicardi-goutieres |
AD,AR |
100 |
75 of 75 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance
** HGMD: Number of clinically relevant mutations according to HGMD
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Crow, Y. J. (2005). Aicardi-Goutières Syndrome. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
Crow Y. J. (2013). Aicardi-Goutières syndrome. Handbook of clinical neurology, 113, 1629–1635. https://doi.org/10.1016/B978-0-444-59565-2.00031-9
Kroner, B., Preiss, L., Ardini, M., & Gaillard, W. (2008). New Incidence, Prevalence, and Survival of Aicardi Syndrome From 408 Cases. Journal Of Child Neurology, 23(5), 531-535. doi: 10.1177/0883073807309782
Prontera, P., Bartocci, A., Ottaviani, V., Isidori, I., Rogaia, D., & Ardisia, C. et al. (2013). Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?. Molecular Syndromology, 4(4), 197-202. doi: 10.1159/000350040
Sutton, V. R., & Van den Veyver, I. B. (2006). Aicardi Syndrome. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
