Background： The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria （DUH） and dyschromatosis symm...Background： The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria （DUH） and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities. Methods： Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity. Results： Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified： One novel mutation on AD,4RI （c. 1325C〉G） and one recurrent mutation in ABCB6 （c. 1270T〉C）, which successfully distinguished two diseases with the similar phenotype. Conclusion： Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.展开更多
目的探讨两例遗传性对称性色素异常症(dyschromatosis symmetrica hereditaria,DSH)患者的遗传学病因.方法应用Sanger测序方法检测2例无亲缘关系的DSH患者的ADAR基因变异.结果Sanger测序结果显示例1的ADAR基因的第8外显子区域存在c.2633...目的探讨两例遗传性对称性色素异常症(dyschromatosis symmetrica hereditaria,DSH)患者的遗传学病因.方法应用Sanger测序方法检测2例无亲缘关系的DSH患者的ADAR基因变异.结果Sanger测序结果显示例1的ADAR基因的第8外显子区域存在c.2633_2634 del CT(p.Ser878fs)杂合缺失变异,该变异导致蛋白质翻译提前终止,在100个正常对照均未发现该变异,例2的ADAR基因未发现致病性变异.对ADAR基因c.2633_2634del CT(p.Ser878fs)缺失变异进行功能学预测,结果提示为致病性变异,变异后的蛋白丢失了1个催化结构域导致功能异常.结论ADAR基因的第8外显子c.2633_2634 del CT(p.Ser878fs)杂合缺失变异可能是例1的遗传学病因.展开更多
基金This study was supported by grants from the National Natural Science Foundation of China，Beijing Natural Science Foundation
文摘Background： The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria （DUH） and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities. Methods： Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity. Results： Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified： One novel mutation on AD,4RI （c. 1325C〉G） and one recurrent mutation in ABCB6 （c. 1270T〉C）, which successfully distinguished two diseases with the similar phenotype. Conclusion： Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.
文摘目的探讨两例遗传性对称性色素异常症(dyschromatosis symmetrica hereditaria,DSH)患者的遗传学病因.方法应用Sanger测序方法检测2例无亲缘关系的DSH患者的ADAR基因变异.结果Sanger测序结果显示例1的ADAR基因的第8外显子区域存在c.2633_2634 del CT(p.Ser878fs)杂合缺失变异,该变异导致蛋白质翻译提前终止,在100个正常对照均未发现该变异,例2的ADAR基因未发现致病性变异.对ADAR基因c.2633_2634del CT(p.Ser878fs)缺失变异进行功能学预测,结果提示为致病性变异,变异后的蛋白丢失了1个催化结构域导致功能异常.结论ADAR基因的第8外显子c.2633_2634 del CT(p.Ser878fs)杂合缺失变异可能是例1的遗传学病因.
