Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria.
BACKGROUND
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominantly inherited dermatosis and characterized by a mixture of hyperpigmented and hypopigmented macules on the back of hands and feet. The DSH locus was mapped to chromosome 1q21 and subsequently pathogenic mutations were identified in the adenosine deaminase acting on RNA1 (ADAR1) gene in 2003.


OBJECTIVE
In this study, we performed a mutation analysis of the ADAR1 gene in eight Chinese families and one sporadic patient with typical DSH.


METHODS
PCR and direct sequencing of the ADAR1 gene were performed to identify and confirm the mutations in the eight families and the sporadic patient.


RESULTS
Six novel and one known mutations were identified, including four missense mutations (p.K1105N, p.G1047R, p.F1099L, p.G1068R), two frameshift mutations (p.Q779fs-792x, p.P441fs-463x) and one nonsense mutation (p.R1096x).


CONCLUSIONS
Six novel mutations were found in five unrelated families and one sporadic case, which have further improved our understanding on the role of ADAR1 in DSH. Interestingly, we failed to detect any mutations of ADAR1 in two families.
Zhang
Furen
F
Shandong Provincial Institute of Dermatovenereology, 57 Jiyan Lu, Jinan 250022, Shandong Province, PR China. Zhangfuren@hotmail.com
Liu
Hong
H
Jiang
Deke
D
Tian
Hongqing
H
Wang
Changyuan
C
Yu
Long
L
D000243:Adenosine Deaminase / Q000378:metabolism*; D044466:Asian People / Q000235:genetics*; D002681:China; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D010859:Pigmentation Disorders / Q000201:enzymology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins; D012873:Skin Diseases, Genetic / Q000201:enzymology / Q000235:genetics*
D018389:Codon, Nonsense; D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase