Neurofibromatosis, Type I (NF1)

What is Neurofibromatosis, Type I (NF1)?

Neurofibromatosis, Type 1 is a genetic condition that affects male and females equally.

Symptoms can vary widely between individuals diagnosed with the syndrome.

The syndrome is characterized by skin and pigmentation abnormalities and fibromatous tumors of the skin.

What gene changes cause Neurofibromatosis, Type I (NF1)?

A damaged NF1 gene is responsible for causing the syndrome. In 50% of cases the faulty gene is inherited from one parent in an autosomal dominant pattern. In the other 50% of cases, the mutation is a new one.

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 which occurs during the reproductive process.

What are the main symptoms of Neurofibromatosis, Type I (NF1)?

Changes to skin color, specifically its pigmentation is a main symptom of th syndrome.

This includes Cafe-au-lait, or coffee coloured spots on the skin which are are characteristic of the condition.

The syndrome also causes the growth of non-cancerous tumors along nerves in the skin, brain and other parts of the body. These tumors may trigger other health or medical conditions.

Learning difficulties are another recognized symptom of the condition.

Overall symptoms may vary widely between individuals in their presentation and severity.

How does someone get tested for Neurofibromatosis, Type I (NF1)?

The initial testing for Neurofibromatosis, Type 1 syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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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