摘要目的：对一个斑驳病家系进行致病基因突变检测。方法收集一个呈常染色体显性遗传的斑驳病家系患者及家系成员的临床资料,采集外周血提取基因组 DNA,应用聚合酶链反应和 Sanger 测序法筛查所有家系成员的 K IT 和 SNAI2基因。结果先证者 K IT 基因第18外显子存在 c.2585T>C突变,与 c.2586G>C 多态性共同导致肥大细胞/干细胞生长因子受体第862位氨基酸由亮氨酸变为脯氨酸(p.Leu862Pro)。c.2585T>C 突变在家系中呈基因型-表型共分离,在 dbSNP142数据库等公共数据库中均未见报道。在 SNAI2基因上未发现突变。结论 K IT 基因 c.2585T>C 突变可能是导致该家系斑驳病表型的原因。

abstractsObjective To identify the pathogenic mutation underlying piebaldism in a Chinese family.Methods A three-generation family showing an autosomal dominant transmission of piebaldism was recruited.Potential mutations of the K IT and SNAI2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing.Results A heterozygous missense mutation,c.2585T>C,was identified in exon 18 of the K IT gene.The mutation,together with a c.2586G>C polymorphism, has led to substitution of Leucine by Proline at amino acid residue 862 (p.Leu862Pro)of the mast/stem cell growth factor receptor KIT.The same mutation was detected in all affected family members but not in dbSNP142,the 1000 Genomes draft database,or the Human Gene Mutation Database.No mutation of the SNAI2 gene was found.Conclusion The c.2585T>C (p.Leu862Pro)mutation in the K IT gene probably underlies the piebaldism phenotype in this family.