Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients Maurice A.M. van Steensel, Valerie.

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Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients Maurice A.M. van Steensel, Valerie L.R.M. Verstraeten, Jorge Frank, Nicole W.J. Kelleners-Smeets, Pamela Poblete-Gutiérrez, Dominique Marcus-Soekarman, Reno S. Bladergroen, Peter M. Steijlen, Michel van Geel Journal of Investigative Dermatology Volume 127, Issue 3, Pages 588-593 (March 2007) DOI: 10.1038/sj.jid.5700592 Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 RT-PCR results from a fibrofolliculoma biopsy of patient MH63 with primers BHD9cF and BHD13cR2. Lane 1, mutant; lane 2, -RT control; lane 3, wild-type. The -RT control is negative, ruling out contamination with genomic DNA. Sizes of the PCR products are on the right and illustrations representing the products on the left. Journal of Investigative Dermatology 2007 127, 588-593DOI: (10.1038/sj.jid.5700592) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Micrographs of the laser capture microdissection procedure. The fibrofolliculoma is colored magenta. The panel labeled “after” shows the situation after dissection of one tumor field, with the tumor tissue removed. Bar=1mm=2.5μm. (a) Sequence chromatogram of exon 11, obtained from the microdissected tumor cells of patient TQ27 (PCR and sequencing with primers BHD12F and BHD13cR). The 11bp deletion is clearly present in the heterozygous state. Journal of Investigative Dermatology 2007 127, 588-593DOI: (10.1038/sj.jid.5700592) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Patient MC60. Typical distribution of numerous flesh-colored papules in the face. Journal of Investigative Dermatology 2007 127, 588-593DOI: (10.1038/sj.jid.5700592) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 The typical histology of a fibrofolliculoma, with its anastomosing strands of epithelial cells. Bar=1mm=100μm. The sample was obtained from patient MC60. Journal of Investigative Dermatology 2007 127, 588-593DOI: (10.1038/sj.jid.5700592) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions