Paula and Bobby
Parents of Lillie
What is Aicardi-Goutieres syndrome?
Aicardi-Goutieres syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Aicardi-Goutieres syndrome is characterized by microcephaly, spasticity, dystonia and cognitive impairment. Brain imaging reveals leukodystrophy and intracranial calcifications. Laboratory findings are CSF lymphocytosis and increased CSF alpha-interferon. Additional features might include lupus-like illness.
Al Mutairi et. al. (2017) reviewed clinical and molecular characteristics of 24 patients (17 males and seven females) with Aicardi-Goutieres syndrome. Clinical characteristics included neonatal presentation (25%), microcephaly (70.8%), visual inattention (50%), abnormal eye movements (29.2%), developmental delay (100%), profound intellectual disability (87.5%), spasticity (100%), truncal hypotonia (87.5%), seizures (75%), cerebral atrophy (75%), calcification (54.2%), white matter changes (91.7%), thin corpus callosum (62.5%), and enlarged ventricles (66.6%). Thirteen patients had homozygous mutations in the RNASEH2B gene, five had homozygous mutations in the RNASEH2A gene, two had homozygous mutations in the RNASEH2C gene, two had novel homozygous mutations in the SAMHD1 gene, one had homozygous mutations in the TREX1, and one had a novel de novo heterozygous mutation in the IFIH1 gene.
* This information is courtesy of the L M D.
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What gene changes cause Aicardi-Goutieres syndrome?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Aicardi-Goutieres syndrome?
The typical symptoms of the syndrome are:
How does someone get tested for Aicardi-Goutieres syndrome?
The initial testing for Aicardi-Goutieres syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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