Seven Novel Mutations of the ADAR Gene in Chinese Families and Sporadic Patients with Dyschromatosis Symmetrica Hereditaria (DSH)

被引：63

作者：

Zhang, Xue-Jun ^{[1
,4
]}

He, Ping-Ping ^{[1
,2
,4
]}

Li, Ming ^{[1
,4
]}

He, Chun-Di ^{[3
]}

Yan, Kai-Lin ^{[1
,4
]}

Cui, Yong ^{[1
,4
]}

Yang, Sen ^{[1
,4
]}

Zhang, Kai-Yue ^{[2
]}

Gao, Min ^{[1
,4
]}

Chen, Jian-Jun ^{[1
,4
]}

Li, Cheng-Rang ^{[1
,4
]}

Jin, Lin ^{[2
]}

Chen, Hong-Duo ^{[3
]}

Xu, Shi-Jie ^{[2
]}

Huang, Wei ^{[2
]}

机构：

[1] Anhui Med Univ, Inst Dermatol, Dept Dermatol, Hosp 1, Hefei 230032, Anhui, Peoples R China

[2] Chinese Natl Human Genome Ctr Shanghai, Shanghai, Peoples R China

[3] China Med Univ, Dept Dermatol, Hosp 1, Shenyang, Liaoning, Peoples R China

[4] Key Lab Genome Res Anhui, Hefei, Anhui, Peoples R China

来源：

HUMAN MUTATION | 2004年 / 23卷 / 06期

基金：

中国国家自然科学基金;

关键词：

dyschromatosis symmetrica hereditaria; DSH; ADAR; Chinese; genotype-phenotype;

D O I：

10.1002/humu.9246

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and molecular findings of 6 Chinese multi-generation families and 2 sporadic patients with DSH. We found that the same mutation could lead to different phenotypes even in the same family and we did not establish a clear correlation between genotypes and phenotypes. Seven novel heterozygous mutations of ADAR were identified, which were c. 2433_ 2434delAG (p.T811fs), c.2197G>T (p.E733X), c.3286C>T (p.R1096X), c.2897G>T (p.C966F), c.2797C>T (p.Q933X), c.2375delT (p.L792fs) and c.3203-2A>G respectively. Our data add new variants to the repertoire of ADAR mutations in DSH. (C) 2004 Wiley-Liss, Inc.

引用

页码：629 / +

页数：6

共 10 条

[1]

He PP, 2004, BR J DERMAT IN PRESS, V150

[2] Induction of protein translation by ADAR1 within living cell nuclei is not dependent on RNA editing [J].

Herbert, A ;

Wagner, S ;

Nickerson, JA .

MOLECULAR CELL, 2002, 10 (05) :1235-1246

[3] Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria [J].

Miyamura, Y ;

Suzuki, T ;

Kono, M ;

Inagaki, K ;

Ito, S ;

Suzuki, N ;

Tomita, Y .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (03) :693-699

[4]

OCONNELL MA, 1995, MOL CELL BIOL, V15, P1389

[5] Reticulate acropigmentation of Dohi [J].

Ostlere, LS ;

Ratnavel, RC ;

Lawlor, F ;

Black, MM ;

Griffiths, WAD .

CLINICAL AND EXPERIMENTAL DERMATOLOGY, 1995, 20 (06) :477-479

[6]

Oyama M, 1999, BRIT J DERMATOL, V140, P491

[7] The solution structure of the Zα domain of the human RNA editing enzyme ADAR1 reveals a prepositioned binding surface for Z-DNA [J].

Schade, M ;

Turner, CJ ;

Kühne, R ;

Schmieder, P ;

Lowenhaupt, K ;

Herbert, A ;

Rich, A ;

Oschkinat, H .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (22) :12465-12470

[8] Requirement of the RNA editing deaminase ADAR1 gene for embryonic erythropoiesis [J].

Wang, Q ;

Khillan, J ;

Gadue, P ;

Nishikura, K .

SCIENCE, 2000, 290 (5497) :1765-1768

[9] GENOMIC ORGANIZATION AND CHROMOSOMAL LOCATION OF THE HUMAN DSRNA ADENOSINE-DEAMINASE GENE - THE ENZYME FOR GLUTAMATE-ACTIVATED ION-CHANNEL RNA EDITING [J].

WANG, Y ;

ZENG, Y ;

MURRAY, JM ;

NISHIKURA, K .

JOURNAL OF MOLECULAR BIOLOGY, 1995, 254 (02) :184-195

[10] Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21 [J].

Zhang, XJ ;

Gao, M ;

Li, M ;

Li, CR ;

Cui, Y ;

He, PP ;

Xu, SJ ;

Xiong, XY ;

Wang, ZX ;

Yuan, WT ;

Yang, S ;

Huang, W .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 120 (05) :776-780

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