Paula and Bobby
Parents of Lillie
Aicardi-Goutieres syndrome 5; AGS5
What is Aicardi-Goutieres syndrome 5; AGS5?
Aicardi-Goutieres syndrome 5; AGS5 is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Henrickson et al. (2017) described a male patient with cerebral vasculopathy and homozygous mutation in the SAMHD1 gene. Clinical features included dry polyarthritis, vocal chord nodules, bilateral hand and foot chilblains, photosensitivity, persistent acral vasculopathy (presenting as episodic Raynaud’s disease), and bilateral hand and foot sclerodactyly. Brain MRI and angiography showed bilateral, diffuse arteriopathic changes of distal internal carotid, anterior, and middle cerebral arteries. Treatment with tocilizumab seemed to diminish the vasculopathy.
* This information is courtesy of the L M D.
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What gene changes cause Aicardi-Goutieres syndrome 5; AGS5?
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 - 612952 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
SAMHD1 - 20q11.23
What are the main symptoms of Aicardi-Goutieres syndrome 5; AGS5?
The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Leukodystrophy, Feeding difficulties in infancy, Basal ganglia calcification, Chilblains, Global developmental delay
How does someone get tested for Aicardi-Goutieres syndrome 5; AGS5?
The initial testing for Aicardi-Goutieres syndrome 5; AGS5 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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