AGO1-Related Disorder

What is AGO1-Related Disorder?

AGO1-Related Disorder is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Heterozygous AGO1 mutations are associated with intellectual disability and autism spectrum disorder.

Sakaguchi et al. (2018) reported a 15-year-old girl with hypotonia, seizures, and intellectual disability caused by de novo heterozygous mutation in AGO1. An intelligence quotient was 41. Facial features included a round face, downslanted palpebral fissures, telecanthus and a wide nasal bridge with bulbous nasal tip. During her childhood, she experienced multiple episodes of febrile seizures evolving to afebrile seizures. Brain CT showed progressive globus pallidus calcification that became evident during childhood.

* This information is courtesy of the L M D.

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What gene changes cause AGO1-Related Disorder?

The syndrome is inherited in the following inheritance pattern/s:

N/A

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:
N/A

What are the main symptoms of AGO1-Related Disorder?

The typical symptoms of the syndrome are:
N/A

How does someone get tested for AGO1-Related Disorder?

The initial testing for AGO1-Related Disorder 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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