Abstract：
OBJECTIVE: To investigate the clinical and genetic features of a child with Dyschromatosis symmetrica hereditaria (DSH) and variant of the ADAR1 gene.
METHODS: A child who was admitted to the Department of Dermatology of the First Affiliated Hospital of Zhengzhou University in June 2020 due to irregular pigmented maculopapular rash on the dorsum of hands was selected as the study subject. Whole exome sequencing (WES) was carried out for the child and his similarly affected father, and Sanger sequencing was used to verify the candidate variant. SWISS-MODEL was used to predict the secondary and tertiary structures of the wild-type and mutant ADAR1 proteins.
RESULTS: The child, a 13-year-old boy, had symmetrical hyperpigmented and depigmented spots on the back of his hands and was clinically diagnosed with DSH. WES and Sanger sequencing results showed that he and his father had both harbored a heterozygous c.2858dup (p.T954Dfs*20) truncating variant in exon 10 of the ADAR1 gene. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted as pathogenic (PVS1+PM2_Supporting+PM1+PP3).
CONCLUSIONS: The c.2858dup (p.T954Dfs*20) variant of the ADAR1 gene probably underlay the DSH in this pedigree.
METHODS: A child who was admitted to the Department of Dermatology of the First Affiliated Hospital of Zhengzhou University in June 2020 due to irregular pigmented maculopapular rash on the dorsum of hands was selected as the study subject. Whole exome sequencing (WES) was carried out for the child and his similarly affected father, and Sanger sequencing was used to verify the candidate variant. SWISS-MODEL was used to predict the secondary and tertiary structures of the wild-type and mutant ADAR1 proteins.
RESULTS: The child, a 13-year-old boy, had symmetrical hyperpigmented and depigmented spots on the back of his hands and was clinically diagnosed with DSH. WES and Sanger sequencing results showed that he and his father had both harbored a heterozygous c.2858dup (p.T954Dfs*20) truncating variant in exon 10 of the ADAR1 gene. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted as pathogenic (PVS1+PM2_Supporting+PM1+PP3).
CONCLUSIONS: The c.2858dup (p.T954Dfs*20) variant of the ADAR1 gene probably underlay the DSH in this pedigree.
摘要：
目的：研究1例与ADAR1基因变异体的临床和遗传特征。
方法：选择2020年6月郑州大学第一附属医院皮肤科因手背不规则色素性斑丘疹入院的患儿为研究对象。对孩子和他同样受影响的父亲进行了全外显子组测序（WES），和Sanger测序用于验证候选变体。SWISS-MODEL用于预测野生型和突变型ADAR1蛋白的二级和三级结构。
结果：孩子，一个13岁的男孩,他的手背上有对称的色素沉着和色素沉着斑点，临床诊断为DSH。WES和Sanger测序结果表明，他和他的父亲都拥有杂合的c.2858dup（p。T954Dfs*20）ADAR1基因外显子10中的截短变体。根据美国医学遗传学和基因组学学院的指南，该变异体被预测为致病性(PVS1+PM2_支持+PM1+PP3)。
结论：c.2858dup（p。T954Dfs*20）ADAR1基因的变体可能是该谱系中DSH的基础。
方法：选择2020年6月郑州大学第一附属医院皮肤科因手背不规则色素性斑丘疹入院的患儿为研究对象。对孩子和他同样受影响的父亲进行了全外显子组测序（WES），和Sanger测序用于验证候选变体。SWISS-MODEL用于预测野生型和突变型ADAR1蛋白的二级和三级结构。
结果：孩子，一个13岁的男孩,他的手背上有对称的色素沉着和色素沉着斑点，临床诊断为DSH。WES和Sanger测序结果表明，他和他的父亲都拥有杂合的c.2858dup（p。T954Dfs*20）ADAR1基因外显子10中的截短变体。根据美国医学遗传学和基因组学学院的指南，该变异体被预测为致病性(PVS1+PM2_支持+PM1+PP3)。
结论：c.2858dup（p。T954Dfs*20）ADAR1基因的变体可能是该谱系中DSH的基础。
