Hafner, Christian and van Oers, Johanna M. M. and Vogt, Thomas and Landthaler, Michael and Stoehr, Robert and Blaszyk, Hagen and Hofstaedter, Ferdinand and Zwarthoff, Ellen C. and Hartmann, Arndt (2006) Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. JOURNAL OF CLINICAL INVESTIGATION, 116 (8). pp. 2201-2207. ISSN 0021-9738, 1558-8238
Full text not available from this repository. (Request a copy)Abstract
Epidermal nevi are common congenital skin lesions with an incidence of 1 in 1,000 people; however, their genetic basis remains elusive. Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin. Acanthosis nigricans and common epidermal nevi of the nonorganoid, nonepidermolytic type share some clinical and histological features. We used a SNaPshot multiplex assay to screen 39 epidermal nevi of this type of 33 patients for 11 activating FGFR3 point mutations. In addition, exon 19 of FGFR3 was directly sequenced. We identified activating FGFR3 mutations, almost exclusively at codon 248 (R248C), in 11 of 33 (33%) patients with nonorganoid, nonepidermolytic epidermal nevi. In 4 of these cases, samples from adjacent histologically normal skin could be analyzed, and FGFR3 mutations were found to be absent. Our results suggest that a large proportion of epidermal nevi are caused by a mosaicisin of activating FGFR3 mutations in the human epidermis, secondary to a postzygotic mutation in early embryonic development. The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GROWTH-FACTOR RECEPTOR-3; UROTHELIAL CELL-CARCINOMA; DYSPLASIA TYPE-I; THANATOPHORIC DYSPLASIA; ACANTHOSIS NIGRICANS; MULTIPLE-MYELOMA; BLADDER-CANCER; CONSTITUTIVE ACTIVATION; TRANSMEMBRANE MUTATION; SKELETAL DYSPLASIA; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Dermatologie und Venerologie Medicine > Lehrstuhl für Pathologie Medicine > Lehrstuhl für Urologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 09 Feb 2021 06:46 |
| Last Modified: | 09 Feb 2021 06:46 |
| URI: | https://pred.uni-regensburg.de/id/eprint/34234 |
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