Paula and Bobby
Parents of Lillie
Aicardi-Goutieres syndrome 6; AGS6
What is Aicardi-Goutieres syndrome 6; AGS6?
Aicardi-Goutieres syndrome 6; AGS6 is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Schmelzer et. al. (2017) described two siblings with Aicardi-Goutier syndrome caused by compound heterozygous mutations in ADAR gene and variable clinical presentation. The first sibling presented at the age of one year with subacute encephalopathy following respiratory infection. He developed spastic tetraparesis with dystonia, dysarthria and microcephaly. Elevated CSF lymphocytes were present. Brain MRI showed mild cerebral atrophy, atrophic putamen and hypoplasia of the corpus callosum. The younger sibling presented with transient neurological impairment in his third year of life.
* This information is courtesy of the L M D.
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What gene changes cause Aicardi-Goutieres syndrome 6; AGS6?
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.
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.
OMIM Number - 615010 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
ADAR - 1q21.3
What are the main symptoms of Aicardi-Goutieres syndrome 6; AGS6?
The typical symptoms of the syndrome are:
Cerebral calcification, Rigidity, Microcephaly, Developmental regression, Hemolytic anemia, Global developmental delay, Nystagmus, Autosomal recessive inheritance, Loss of ability to walk, Loss of speech, Tremor, Leukodystrophy
How does someone get tested for Aicardi-Goutieres syndrome 6; AGS6?
The initial testing for Aicardi-Goutieres syndrome 6; AGS6 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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