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Case Reports
. 2014 Oct;134(10):2658-2660.
doi: 10.1038/jid.2014.195. Epub 2014 Apr 21.

Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies

Veronica A Kinsler  1 , Sven Krengel  2 , Jean-Baptiste Riviere  3 , Regula Waelchli  4 , Carolina Chapusot  5 , Lara Al-Olabi  6 , Laurence Faivre  7 , Holger A Haenssle  8 , Lisa Weibel  9 , Géraldine Jeudy  7 , Pierre Vabres  10
Affiliations
Free PMC article
Case Reports

Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies

Veronica A Kinsler et al. J Invest Dermatol. 2014 Oct.
Free PMC article
No abstract available

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Figures

Figure 1
Figure 1
Clinical images of nevus spilus–type CMN in six different patients. The café-au-lait macule background is often invisible at birth. Two separate lesions are indicated in one patient. CMN, congenital melanocytic nevi. Written consent was obtained for publication of all photographs.
Figure 2
Figure 2
Sequencing results showing NRAS mutation. Next-generation sequencing reads of blood (upper left), café-au-lait macule (upper centre), and overlying CMN (upper right) from the same patient showing mutation NRAS c.183A>C p.Q61H. Note the absence of mutation in the blood, and the much lower percentage of mosaicism in the café-au-lait than the CMN, as would be expected from the number of affected cells in a biopsy sample. Sanger sequencing (below) confirmation of the heterozygous pQ61H mutation in CMN. CMN, congenital melanocytic nevi.
See this image and copyright information in PMC

Comment in

References

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