Paula and Bobby
Parents of Lillie
Aicardi-Goutieres atyoical - SAMHD1 mutation
What is Aicardi-Goutieres atyoical - SAMHD1 mutation?
Aicardi-Goutieres atyoical - SAMHD1 mutation is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
A sinlge adult man with consanguineous parents has intellectual disability and spasticity and basal ganglia calcification. His hair was prematurely grey and he had an aged appearance. He had a hoarse voice, small testes and hyperkeratosis of the soles of his feet. He was found to be homozygous for the SAMHD1 mutation, but also heterozygous for a WRN mutation which the authors (Lessel et al., 2014) suggest might have had a modifying effect.
* This information is courtesy of the L M D.
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What gene changes cause Aicardi-Goutieres atyoical - SAMHD1 mutation?
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Aicardi-Goutieres atyoical - SAMHD1 mutation?
The typical symptoms of the syndrome are:
How does someone get tested for Aicardi-Goutieres atyoical - SAMHD1 mutation?
The initial testing for Aicardi-Goutieres atyoical - SAMHD1 mutation 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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