Wu B L, Boles R G, Yaari H, Weremowicz S, Schneider G H, Korf B R
Division of Genetics, Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Hum Genet. 1997 Feb;99(2):209-13. doi: 10.1007/s004390050341.
We report a young child with a large congenital cervical plexiform neurofibroma and multiple café-aul-ait spots in a generalized distribution who has mosaicism for complete deletion of the NF1 gene. The deletion was demonstrated with intragenic cosmid probes as well as YACs spanning a 700-kb contig including NF1, by two-color FISH with an NF1 and a control probe. Using different intragenic probes, deletion was found in 77-84% of cultured peripheral blood lymphocytes but not in cultured skin fibroblasts. Neither parent has signs of neurofibromatosis type 1 (NF1) or a gene deletion. This is the first report of mosaicism for complete deletion of the NF1 gene. The child did not have typical NF1 or display segmental features of NF1.
我们报告了一名患有大型先天性颈丛状神经纤维瘤且全身广泛分布有多个咖啡斑的幼儿，其存在NF1基因完全缺失的嵌合体现象。通过使用NF1基因内粘粒探针以及跨越包括NF1在内的700 kb重叠群的酵母人工染色体（YAC），并用NF1探针和对照探针进行双色荧光原位杂交（FISH），证实了该缺失。使用不同的基因内探针，在77% - 84%的培养外周血淋巴细胞中发现了缺失，但在培养的皮肤成纤维细胞中未发现。父母双方均无1型神经纤维瘤病（NF1）的体征或基因缺失。这是NF1基因完全缺失嵌合体现象的首例报告。该患儿没有典型的NF1特征，也未表现出NF1的节段性特征。
