关键词: 色素沉着异常, DNA突变分析, 遗传性对称性色素异常症, ADAR基因

Abstract: 【Abstract】 Objective To investigate two Chinese pedigrees with dyschromatosis symmetrica hereditaria （DSH）, and to analyze gene mutations in the pedigrees. Methods Clinical data were collected from two probands with DSH and other family members in their pedigrees. Peripheral blood samples were obtained from the two probands, their parents and 100 unrelated healthy controls. Gene mutations were detected by using a skin-targeted sequencing panel, and then verified by Sanger sequencing. Results Case 1, an 18-year-old male patient, presented with millet-sized hyperpigmented and hypopigmented macules scattered on the dorsum of both hands and feet at the age of 5 years, and his mother had similar manifestations. A novel heterozygous frameshift mutation c.1970dupT （p.F657fs） was identified in exon 5 of the ADAR gene in case 1 and his mother, but not found in his father. Case 2, an 8-year-old male patient, presented with mottled rice- to soybean-sized brown hyperpigmented macules and hypopigmented macules on the face and neck, lower back, buttocks, lower limbs, as well as hands and feet, and his father presented with similar manifestations. A known heterozygous frameshift mutation c.2433_2434delAG （p.T811fs） was identified in exon 7 of the ADAR gene in case 2 and his father, but not found in his mother. Neither of the two mutations was identified in the 100 unrelated healthy controls. Conclusion In this study, a novel mutation c.1970dupT （p.F657fs） in the ADAR gene was identified in a patient with DSH.

Key words: Pigmentation disorders, DNA mutational analysis, Dyschromatosis symmetrica hereditaria, ADAR gene