遗传性对称性色素异常症2例基因诊断

Genetic diagnosis of two patients with atypical dyschromatosis symmetrica hereditaria

目的:鉴定1例遗传性对称性色素异常症(dyschromatosis symmetrica hereditaria,DSH)患者ADAR1(adenosine deaminase acting on RNA1)基因突变,并对该家系中一临床不典型病例进行基因诊断。方法:采集1例DSH患者及家族成员的外周血,应用直接测序的方法检测突变位点。结果:在患者10号内含子区域检测到1个剪接位点突变(c.2886-5T>C)。另外,对该家系中临床表现不典型的患者,基因测序结果支持该病的诊断。结论:该研究检测到1例新的剪接位点突变,异常剪接方式为外显子的删除。并明确了该家系中临床不典型患者的诊断,在Wood灯下进一步确定了其临床表型。

Objective： To detect mutation of one patient with dyschromatosis symmetrica hereditaria （DSH） and to identify another patient with atypical clinical features in this family. Methods： PCR and direct sequencing were performed respectively for the family members to screen the mutations in ADAR1 gene. Then reverse transcription-polymerase chain reaction （RT-PCR） was used to investigate the corresponding mRNA. Results： One non-canonical splice mutation （c.2886-5T〉C） was identified in one patient with DSH. In addition, for another patient, whose clinical phenotypes did not accord with typical clinical manifestation of DSH, the same mutation was found. Conclusion： One novel splice mutation was identified. We made the diagnosis of atypical DSH by direct DNA sequencing. Furthermore, his phenotype was observed by Wood＇s light.