Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria

Journal of Dermatology

Volumn 39, Issue 9, 2012, Pages 819-821

  Kono, Michihiro ^a   Akiyama, Masashi ^a   Kondo, Taisuke ^a   Suzuki, Tamio ^b   Suganuma, Mutsumi ^a   Wataya Kaneda, Mari ^c   Lam, Joseph ^d   Shibaki, Akihiko ^e   Tomita, Yasushi ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; ADENOSINE DEAMINASE ACTING ON RNA 1; AMINO ACID; BLOOD EXTRACT; MESSENGER RNA; RNA; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; CASE REPORT; CHILD; CONTROLLED STUDY; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; ENZYME ACTIVITY; EXON; GENE AMPLIFICATION; GENE MUTATION; HUMAN; INFANT; LETTER; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN DISEASE; STOP CODON;

ADENOSINE DEAMINASE; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; INFANT; PIGMENTATION DISORDERS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 84865619705     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2011.01385.x     Document Type: Letter

References (9)

1. Kono M, Miyamura Y, Matsunaga J, Tomita Y,. Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9. J Dermatol Sci 2000; 22: 88-95.
2. Miyamura Y, Suzuki T, Kono M, et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003; 73: 693-699.
3. Bass BL, Weintraub H,. An unwinding activity that covalently modifies its double-stranded RNA substrate. Cell 1988; 55: 1089-1098.
4. Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P,. Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Am J Hum Genet 1992; 51: 1058-1065.
5. Suzuki N, Suzuki T, Inagaki K, et al. Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. J Invest Dermatol 2005; 124: 1186-1192.
6. Liu Q, Jiang L, Liu WL, et al. Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. Br J Dermatol 2006; 154: 636-642.
7. Nagy E, Maquat LE,. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998; 23: 198-199.
8. Wang XP, Liu Y, Wang JM, Xiao SX,. Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. J Dermatol 2010; 37: 1051-1052.
9. Tomita Y, Suzuki T,. Genetics of pigmentary disorders. Am J Med Genet C 2004; 131C: 75-81.