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Human and Mouse NF1 Gene Maps Updated

When the gene responsible for NF1 was first discovered over 25 years ago, the NF1 gene had not yet been fully identified. The ensuing two decades witnessed the identification of new segments of the NF1 gene, as well as the sequencing of the entire human genome. While these advances rendered a more complete map of the NF1 gene, its entire sequence, especially the organization of its smaller building blocks (exons), was no longer accurate. This created considerable confusion in the clinical and scientific research communities when assigning a location to a specific NF1 gene mutation.

To address this problem, a collaborative team, including researchers at Washington University, University of Texas Southwestern Medical Center, and the University of Alabama at Birmingham proposed a new numbering system to provide a unified nomenclature for both the mouse and human NF1 genes. The implementation of this system should enable more accurate reporting and better communication among clinicians and researchers.

This report was published in the August 2017 issue of the journal Neurology: Genetics.


Anastasaki C, Le LQ, Kesterson RA, Gutmann DH. Updated nomenclature for human and mouse neurofibromatosis type 1 genes. Neurol Genet.  2017 Jul 26;3(4):e169. doi: 10.1212/NXG.0000000000000169. eCollection 2017 Aug. PMID:28804759