PHILADELPHIA — It doesn’t have an “official” name yet, but researchers have identified a new genetic disorder that causes neurodevelopmental differences, along with abnormalities in the head, facial bones, and limbs. Researchers at the Children’s Hospital of Philadelphia (CHOP) believe a series of rare variants in the MAP4K4 gene is responsible for the condition.

The MAP4K4 gene is involved in many signaling pathways in the body, including the RAS pathway, which is responsible for normal cell growth. This gene is currently being investigated as a target for multiple disorders, including cancer.

“We were able to connect with patients from all over the world who had overlapping symptoms, and eventually we were able to pinpoint the overlapping genes that helped us identify the variants causing these issues,” says co-senior author Elizabeth Bhoj, MD, PhD, an attending physician in the Division of Human Genetics at CHOP, in a media release.

The researchers identified variants that had not been linked to a particular disorder in families where multiple patients exhibited the same symptoms. Once they identified variants of interest, researchers created a zebrafish model to confirm that these variants were responsible for the symptoms among these patients. The researchers showed that decreasing activity of MAP4K4 causes developmental defects in zebrafish, which scientists observed in these patients.

However, overactive RAS activity can lead to cancer, which is why any therapeutic interventions targeting MAP4K4 need to be finely tuned to strike a balance between treating one disorder and ensuring not to increase the risk of cancer.

The researchers believe that the causal gene may be a valuable therapeutic target for other disorders as well. Since this is a newly discovered genetic variant that causes disease in certain patients, researchers would like to know if it is implicated in more general diseases.

“With a new discovery like this, it’s possible we may have missed how these variants influence other diseases,” Bhoj concludes.

The study is published in the journal Science Advances.

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