Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Jul 23;4(4):e261.
doi: 10.1212/NXG.0000000000000261. eCollection 2018 Aug.

Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1

Morgan E Freret  1 , Corina Anastasaki  1 , David H Gutmann  1
Affiliations

Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1

Morgan E Freret et al. Neurol Genet. .
No abstract available

PubMed Disclaimer

Figures

Figure
Figure. Unique second neurofibromatosis type 1 (NF1) gene mutations in multiple café-au-lait macules (CALMs) from an individual with segmental NF1
(A) Segmental or mosaic NF1 is caused by de novo NF1 gene mutations that occur during postzygotic development and affect only a subset of cells in the body. Genetic testing of melanocytes derived from three different CALMs in the patient's affected body segment (denoted by the diagonal stripes) revealed a common 1.4 megabase (MB) deletion, resulting in total loss of one copy of the NF1 gene, and three unique second-hit mutations affecting the remaining NF1 allele. The insets depict both NF1 gene copies in the indicated cell types. (B) Locations (colored pinheads) and predicted messenger RNA (mRNA) and protein changes resulting from the second NF1 gene mutations in melanocytes derived from three different CALMs. Two intronic mutations were located within splice sites, and one exonic mutation resulted in a premature stop codon (nonsense mutation). Short black boxes denote introns; tall gray boxes denote exons.
See this image and copyright information in PMC

References

    1. Listernick R, Mancini AJ, Charrow J. Segmental neurofibromatosis in childhood. Am J Med Genet A 2003;121A:132–135. - PubMed
    1. Maertens O, De Schepper S, Vandesompele J, et al. . Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet 2007;81:243–251. - PMC - PubMed
    1. Ko Y, Lee C, Lee H, Lee M, Lee JS. Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis. J Dermatol Sci 2017;88:370–372. - PubMed
    1. Kehrer-Sawatzki H, Mautner VF, Cooper DN. Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet 2017;136:349–376. - PMC - PubMed
    1. Messiaen L, Vogt J, Bengesser K, et al. . Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat 2011;32:213–219. - PubMed