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目的分析报道首例中国汉族B rooke-sp iegler综合征(BSS)家系中的圆柱瘤(CYLD)基因突变。方法收集家系资料并采集家系成员血样,从外周血中提取全基因组DNA,利用PCR反应扩增整个CYLD基因的编码序列,并对扩增产物进行直接测序分析。同时总结了PubM ed上2000年以来所报道的所有CYLD基因突变。结果迄今为止,共报道了33个CYLD基因的突变,笔者检测到一个过去曾报道与家族性圆柱瘤(FC)发生相关的无义突变2272C>T(R758X)。结论CYLD基因型与表型之间无一致关联性,报道的该突变可以导致中国汉族人BSS的发生。
OBJECTIVE: To report the first case of CYLD gene mutation in the Chinese Crohn’s-spiegler syndrome (BSS) pedigree. Methods We collected pedigree data and collected blood samples from family members. Genomic DNA was extracted from peripheral blood. The coding sequence of CYLD gene was amplified by PCR. The amplified products were directly sequenced. It also summarizes all CYLD mutations reported by PubMed since 2000. Results So far, a total of 33 CYLD gene mutations were reported. We detected a nonsense mutation 2272C> T (R758X) that was previously reported to be associated with familial cylindromatosis (FC). Conclusion There is no consistent correlation between CYLD genotypes and phenotypes, and the reported mutations may lead to the occurrence of BSS in Han Chinese.