NF1 microdeletions and mutations gene location chromosome 17q11.2

chromosome 17

Neurofibromatosis type 1 (NF1) is a hereditary syndrome. The main manifestations of this condition include café-au-lait spots, Lisch nodules and neurofibromas. It occurs in 1 to every 2000-3000 people. In most patients NF1 is caused by mutations of the NF1 gene, located at 17q11.2. However, 5-11% of patients have deletions encompassing both the NF1 gene and the DNA surrounding it.

The authors made a detailed comparison of the clinical manifestations in 30 patients who had NF1 caused by deletions and in a group of patients who had NF1 caused by mutations of the gene.

When analyzing the existence and abundance of the neurofibromas, both internal and external tumors were evaluated. After MRI’s and volumetric analysis were performed, patients with the NF1 microdeletions were found to have more external and internal neurofibromas than those who only exhibited a mutation.

Global developmental delay was found in 93% of patients with NF1 caused by microdeletions that is significantly more frequent than in patients with mutations of the NF1 gene. Mean intelligence quotient was much higher in patients with mutations. Autistic features and attention deficit developmental disorder also were much more common in patients with deletions than in the general NF1 population.

Conclusively, NF1 microdeletion patients are affected more greatly than patients with mutations that indicates their need for long-term specialized care.

Kehrer-Sawatzki et al. Clinical characterization of children and adolescents with NF1 microdeletions. “Child’s Nervous System” 2020, online.

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