Aicardi-Goutières syndrome [7 genes]

Aicardi-Goutières syndrome (AGS) is an inherited heterogeneous encephalopathy with an early onset with both autosomal dominant and recessive forms. Severe manifestations include cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon,epatosplenomegaly, elevated liver enzymes, and thrombocytopenia. This disease develops with characteristics typical of inflammatory (inflammation and tissue damage in the central nervous system) and autoimmune disorders (about 40% of AGS patients show chilblain skin lesions on the fingers, toes and ears, typical of lupus-like syndrome and recurrent fever in absence of infection). Affected genes are involved in DNA repair, innate response dysregulation, and RNA processing abnormalities.

  • Encephalopathy: cerebral atrophy, leukodystrophy,
    intracranial calcifications
  • Autoinflammation and/or autoimmunity: CNS tissue damage, CSF lymphohistiocytosis, increased CSF interferon alpha, lupus-like symptoms (SLE-like) (40%)
  • Thrombocytopenia
  • Hepatosplenomegaly, elevated liver enzymes

  • Uknown
  • Few families described

  • Diagnosis and genetic counseling
  • Immunosuppressive therapy

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Aicardi-Goutières syndrome

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-201805369

Aicardi-Goutières syndrome: View panel
  • ADAR
  • IFIH1
  • RNASEH2A
  • RNASEH2B
  • RNASEH2C
  • SAMHD1
  • TREX2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Crow YJ1,2. Aicardi-Goutières Syndrome. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2005 Jun 29 [updated 2016 Nov 22].
  2. Gorman JA1, Hundhausen C2, Errett JS3,4, Stone AE3,4, Allenspach EJ1,5, Ge Y6, Arkatkar T1, Clough C1, Dai X1, Khim S1, Pestal K4, Liggitt D7, Cerosaletti K2, Stetson DB4, James RG1,5, Oukka M1,4,5, Concannon P6, Gale M Jr3,4, Buckner JH2, Rawlings DJ1,4,5. The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity. Nat Immunol. 2017 Jul;18(7):744-752. doi: 10.1038/ni.3766. Epub 2017 May 29.
  3. Henrickson M1, Wang H2. Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation. Clin Rheumatol. 2017 Jun;36(6):1445-1451. doi: 10.1007/s10067-017-3600-2. Epub 2017 Mar 13.
  4. Ortiz-Madinaveitia S1, Conejo-Moreno D2, López-Pisón J3, Peña-Segura JL3, Serrano-Madrid ML1, Durán-Palacios IC1, Peláez-Cabo P1. [Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases]. Rev Neurol. 2016 Feb 16;62(4):165-9.