Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

BMC Medical Genetics

Volumn 17, Issue 1, 2016, Pages

  Zhang, Guolong ^a   Shao, Minhua ^b   Li, Zhixiu ^c   Gu, Yong ^b   Du, Xufeng ^b   Wang, Xiuli ^a   Li, Ming ^d  

^a TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

^b NANJING MEDICAL UNIVERSITY   (China)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

ADAR1; Dyschromatosis symmetrica hereditaria; Mutation; Nonstop

Indexed keywords

ADAR1 GENE; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; FEMALE; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENODERMATOSIS; GERMLINE MUTATION; HUMAN; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; SEQUENCE ANALYSIS; YOUNG ADULT; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE CONTROL STUDY; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; GENETICS; MALE; MUTATION; PHENOTYPE; PIGMENTATION DISORDERS; PRESCHOOL CHILD;

ADAR1 PROTEIN, HUMAN; ADENOSINE DEAMINASE; RNA BINDING PROTEIN;

ADENOSINE DEAMINASE; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION; PHENOTYPE; PIGMENTATION DISORDERS; RNA-BINDING PROTEINS;

EID: 84959205556     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0255-1     Document Type: Article

References (15)

1. Hayashi M, Suzuki T. Dyschromatosis symmetrica hereditaria. J Dermatol. 2013;40(5):336-3.
2. Li M, Jin C, Yang L, Lai M, Yao Z. A novel complex insertion-deletion mutation in ADAR1 gene in a Chinese family with dyschromatosis symmetrica hereditaria. J Eur Acad Dermatol Venereol. 2011;25(6):743-6.
3. Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet. 2003;73(3):693-9.
4. Li M, Yang L, Li C, Jin C, Lai M, Zhang G, et al. Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria. Arch Dermatol Res. 2010;302(6):469-76.
5. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001;11(5):863-74.
6. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-9.
7. Folkman L, Yang Y, Li Z, Stantic B, Sattar A, Mort M, et al. DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels. Bioinformatics. 2015;31(10):1599-606.
8. Schade M, Turner CJ, Kühne R, Schmieder P, Lowenhaupt K, Herbert A, et al. The solution structure of the Zalpha domain of the human RNA editing enzyme ADAR1 reveals a prepositioned binding surface for Z-DNA. Proc Natl Acad Sci U S A. 1999;96(22):12465-70.
9. Wagner E, Lykke-Andersen J. mRNA surveillance: the perfect persist. J Cell Sci. 2002;115(Pt 15):3033-8.
10. Zhang GL, Shi HJ, Shao MH, Li M, Mu HJ, Gu Y, et al. Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. Genet Mol Res. 2013;12(3):2794-9.
11. Chatr-Aryamontri A, Angelini M, Garelli E, Tchernia G, Ramenghi U, Dianzani I, et al. Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. Hum Mutat. 2004;24:526-33.
12. Lualdi S, Di Rocco M, Corsolini F, Spada M, Bembi B, Cotugno G, et al. Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms. Biochim Biophys Acta. 2006;1762(6):478-84.
13. Ameri A, Machiah DK, Tran TT, Channell C, Crenshaw V, Fernstrom K, et al. A nonstop mutation in the factor (F) X gene of a severely haemorrhagic patient with complete absence of coagulation FX. Thromb Haemost. 2007;98(6):1165-9.
14. Torres-Torronteras J, Rodriguez-Palmero A, Pinós T, Accarino A, Andreu AL, Pintos-Morell G, et al. A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy. Hum Mutat. 2011;32(4):E2061-8.
15. Kawaguchi M, Hayashi M, Murata I, Hozumi Y, Suzuki N, Ishii Y, et al. Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. J Dermatol Sci. 2012;66(3):244-5.