期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 8, 期 6, 页码 455-459出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5200493
关键词
segmental neurofibromatosis; FISH; NF1 gene deletion; microdeletion; somatic mosaicism
Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1 (neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at the molecular level. Using fluorescence in situ hybridisation (FISH) we identified an NF1 microdeletion in a patient with segmental NF in whom cafe-au-lait spots and freckles are limited to a single body region. The mutant allele was present in a mosaic pattern in cultured fibroblasts from a cafe-au-lait spot lesion, but was absent in fibroblasts from normal skin as well as in peripheral blood leukocytes. These findings prove the hypothesis that the molecular basis of segmental cutaneous NF is a mutation in the NF1 gene and that the regional distribution of manifestations reflects different cell clones, commensurate with the concept of somatic mosaicism.
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