A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review

Liu Shuai-Mei; Ni Meng-Xia; Zhang Ming-Chao; Zhu Pei-Ran; Wu Qiu-Yu; Jiang Wei-Jun; Zhang Jing; Li Wei-Wei; Xia Xin-Yi

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A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review

机译：中国家庭中ADAR1基因的一种新的畸形突变，导致脱染症Symmetrica细胞和文献综述

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Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH. This study was mainly to explore the pathogenic mutation of ADAR1 gene and provide genetics counselling and prenatal diagnostic testing for childbearing individuals. Mutational analysis of ADAR1 gene was performed by polymerase chain reaction (PCR) and electrophoretic separation of PCR products by 1.5% agarose gel electrophoresis. The coding exons and intron/exon flanking regions followed by bidirectional sequencing was performed on all participants. In this study, we found that a 28 year-old male patient harbouring a deleterious substitution of Leu1052Pro in the ADAR1 gene in a typical DSH family. His mother suffered from the DSH also owns the same mutation. This mutation, however, is not identified in the unaffected members in this family and those 200 normal controls. In summary, this new mutation Leu1052Pro reported here is pathogenic and detrimental for DSH. Our finding not only enriches mutation database and contributes to dissecting further the correlation between mutation position and phenotypical features of DSH, but also provides genetics counselling and prenatal diagnostic testing for childbearing couple.

机译：Dyschromatosis Symmetrrica肠道（DSH）是一种罕见的常染色体显色性色素瘤病，其特征在于手脚背部的超景化和低分化的斑疹的混合物，并且在雀斑的脸上呈现。鉴定RNA特异性腺苷脱氨酶1（ADAR1）基因导致DSH。本研究主要探讨了ADAR1基因的致病性突变，并为生育个体提供遗传咨询和产前诊断检测。 ADAR1基因的突变分析通过聚合酶链式反应（PCR）和PCR产物的电泳分离通过1.5％琼脂糖凝胶电泳进行。对所有参与者进行双向测序的编码外显子和内含子/外显子侧翼区域。在这项研究中，我们发现，在典型的DSH家族中，一名28岁的男性患者在ADAR1基因中含有有害的Leu1052Pro替代Leu1052Pro。他的母亲遭受DSH也拥有相同的突变。然而，这种突变未在该家庭的未受影响的成员中鉴定在该家庭的未受影响的成员中，并且是那些200个正常对照。总之，这种新的突变Leu1052Pro在此报告是致病性和对DSH的损害。我们的发现不仅富集突变数据库，并有助于进一步解剖突变位置与DSH的表型特征之间的相关性，但也为生育夫妇提供遗传咨询和产前诊断测试。

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来源
《Journal of genetics》 |2017年第6期|共6页
作者
Liu Shuai-Mei; Ni Meng-Xia; Zhang Ming-Chao; Zhu Pei-Ran; Wu Qiu-Yu; Jiang Wei-Jun; Zhang Jing; Li Wei-Wei; Xia Xin-Yi;
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作者单位

Nanjing Univ Inst Lab Med Jinling Hosp Dept Reprod &

Genet Sch Med Nanjing 210002 Jiangsu Peoples R China;

Nanjing Univ Inst Lab Med Jinling Hosp Dept Reprod &

Genet Sch Med Nanjing 210002 Jiangsu Peoples R China;

Nanjing Univ Inst Lab Med Jinling Hosp Dept Reprod &

Genet Sch Med Nanjing 210002 Jiangsu Peoples R China;

Nanjing Univ Inst Lab Med Jinling Hosp Dept Reprod &

Genet Sch Med Nanjing 210002 Jiangsu Peoples R China;

Nanjing Univ Inst Lab Med Jinling Hosp Dept Reprod &

Genet Sch Med Nanjing 210002 Jiangsu Peoples R China;

Nanjing Univ Inst Lab Med Jinling Hosp Dept Reprod &

Genet Sch Med Nanjing 210002 Jiangsu Peoples R China;

Nanjing Univ Inst Lab Med Jinling Hosp Dept Reprod &

Genet Sch Med Nanjing 210002 Jiangsu Peoples R China;

Nanjing Univ Inst Lab Med Jinling Hosp Dept Reprod &

Genet Sch Med Nanjing 210002 Jiangsu Peoples R China;

Nanjing Univ Inst Lab Med Jinling Hosp Dept Reprod &

Genet Sch Med Nanjing 210002 Jiangsu Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类遗传学;
关键词
dyschromatosis symmetrica hereditaria; RNA-specific adenosine deaminase 1; mutation analysis; bioinformatics analysis; genetics counselling; prenatal diagnostics;

机译：Dyschromatosis symmetrica噬菌体;RNA特异性腺苷脱氨酶1;突变分析;生物信息学分析;遗传咨询;产前诊断;

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专利

1. A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review [J] . Liu Shuai-Mei, Ni Meng-Xia, Zhang Ming-Chao, Journal of genetics . 2017,第6期

机译：中国家庭中ADAR1基因的一种新的畸形突变，导致脱染症Symmetrica细胞和文献综述
2. Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria [J] . Lv Yuan, Liu Cai-Xia, Zhao Yan, International journal of dermatology . 2016,第10期

机译：中国对称性色差病两个家族中ADAR1基因的新型突变
3. Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. [J] . Liu H, Fu XA, Yu YX, Clinical and experimental dermatology . 2011,第7期

机译：鉴定两个对称性遗传性色异常的中国家庭中ADAR1基因的两个新的剪接突变。
4. Functional consequences of missense mutation in the GJB2 gene associated with non-synclromic hearing loss [C] . Lee Kyu Yup, Choi Soo-Young, Lin Xi, Asia Pacific Symposium on Cochlear Implant and Related SciencesAsia Pacific Symposium on Cochlear Implant and Related Sciences . 2009

机译：与非辛瘤性听力损失相关的GJB2基因畸形突变的功能后果
5. A Missense Mutation in the Loss-of-Function Intolerant Actr2 Gene Suppresses Thrombosis via Multiple Mechanisms [D] . Siebert-McKenzie, Amy Elizabeth. 2017

机译：在功能丧失的不宽容性ActR2基因中的畸形突变通过多种机制抑制血栓形成
6. Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria [O] . Zhuang-li Tang, Shuang Wang, Chen Tu, -1

机译：中国对称性色盲症患者的ADAR1基因的八个新突变。
7. A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient [O] . Zhi-Liang Li, Guo-Yi Zhang, Yun Hui, 2015

机译：aDaR1基因中一种新的错义突变导致中国患者的对称性遗传性色素沉着症

A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review

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