Researchers Are Trying to Understand the Link Between Specific Genetic Variants and Symptoms in Neurofibromatosis Type 1

An international study led by researchers at the University of Alabama Birmingham has investigated the link between a specific genetic mutation underlying neurofibromatosis type 1, and the symptoms patients with that particular mutation experience. For more detailed information, you can find the source News Release from the University of Alabama Birmingham here, or, alternatively, click here to view the original study.

About Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a genetic condition that can cause the growth of tumours that are usually non-cancerous. People with NF1 may also have unusually clustered freckles, coffee coloured skin patches, problems with the eyes, bones, and nervous system, and learning difficulties, amongst other symptoms. However, experiences of NF1 can vary a lot between people.

The p.Met992del Genetic Alteration

The NF1 gene is large, and, according to UAB’s article, around 3,000 different genetic mutations in it have been linked to the development of NF1. One of these is a three base pair in-frame deletion that is known as p.Met992del. This specific genetic change is thought to underly a form of NF1 that, unusually, isn’t associated with externally visible tumours.

The Research

An international team of researchers investigated the link between the p.Met992del genetic alteration, and the symptoms of the people who had it. Based on research involving 135 people with the variant, the scientists found that approximately 40% of the group had cognitive impairment or learning difficulties. In addition, the researchers didn’t find complications such as optic pathway gliomas (a type of brain tumour) or symptomatic spinal neurofibromas. However, just under 5% of the people taking part had non-optic brain tumours, which were mostly low-grade and asymptomatic.

The Applications of the Study

This research attempts to link specific genetic variants of NF1 to certain symptoms. According to UAB’s article, most NF1 variants do not show clinically useful correlations between these two features. However, when they are present it is important to understand them, according to researchers, because they could be used to help families understand how the condition is likely to develop in the future. In addition, doctors may be able to use information like this to guide their treatment decisions and give patients more personalised medical care. According to one researcher who worked on the study, this approach has led to a better understanding of three correlations that, when combined, have an impact on 2-3% of patients with NF1.


Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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