斑驳病的一种新的KIT基因突变

A novel KIT gene mutation results in piebaldism

目的研究1个斑驳病家系先证者及其母亲的基因突变情况。方法经组织病理、电镜检查结合典型的临床特征确立斑驳病的诊断。采用聚合酶链反应及DNA直接测序的方法对1个斑驳病家系进行基因突变检测。结果家系中先证者存在KIT基因第1833位G>A,导致V604I。100名健康对照者及其它家庭成员不存在此突变。结论V604I是引起该家系临床表型的原因。

Objective To detect gene mutation in proband and his mother from a family with piebaldism. Methods Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical-manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism. Results G1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resuited in V6041 substitution in KIT gene. No mutation was found in 100 normal individuals and other family members. Conclusion The mutation of V6041 is the cause of clinical phenotype of the family with piebaldism.