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目的检测一对多发性皮肤平滑肌瘤兄弟延胡索酸水合酶(fumarate hydratase,FH)基因外显子突变情况,以明确其致病突变。方法收集患病兄弟的临床资料,提取其外周血DNA,通过PCR扩增FH基因编码区的全部外显子(n=10)并测序,以10例健康志愿者为对照。结果发现该兄弟均存在FH基因外显子7(c.927G>GA)的无义杂合突变(p.P309P)和外显子9(c.1256C>CT)错义杂合突变(p.S419L),其中前者是已知的突变位点,后者是新发现位点的突变。对照组均未发现上述位点的突变。结论外显子9(1256C>CT)的错义突变可能是导致兄弟俩临床表型的原因,为该病的基因突变研究增加新的数据。
Objective To detect the mutation of exon of fumarate hydratase (FH) gene in a pair of multiple skin leiomyoma of the skin in order to confirm its pathogenic mutation. Methods The clinical data of the affected brothers were collected and their peripheral blood DNA was extracted. All exons (n = 10) of FH gene coding region were amplified by PCR and sequenced. Ten healthy volunteers were used as controls. The results showed that there was heterozygous heterozygous mutation of nonsense mutation (p.P309P) and exon 9 (c.1256C> CT) of FH gene exon 7 (c.927G> GA) S419L), where the former is a known mutation site and the latter is a mutation of a newly discovered site. No mutation in the control group was found. Conclusions The missense mutation in exon 9 (1256C> CT) may be the cause of the clinical phenotype of the two brothers, adding new data for the study of gene mutation in this disease.