Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria.
OBJECTIVE
To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH).


METHODS
Pedigree study.


METHODS
Anhui province of China.


METHODS
Two Chinese families, consisting of 19 individuals (family 1) and 5 individuals (family 2).


METHODS
We directly performed mutation detection of the DSRAD gene in 2 Chinese families with DSH by sequencing. The whole coding region of DSRAD was amplified by polymerase chain reaction, and products were analyzed by direct sequencing.


METHODS
Frameshift DSRAD gene mutations.


RESULTS
The c.3513insC (Arg1171fs) mutation was found in all patients but not in the healthy individuals from family 1, and the c.3220_3224delGCATC (Gly1073fs) mutation was found in 2 patients but not in the healthy members of family 2. These 2 mutations were not found in 96 unrelated control individuals.


CONCLUSIONS
Our data suggest that these 2 novel frameshift mutations in the DSRAD gene could cause DSH in the Chinese Han population and add new variants to the repertoire of DSRAD mutations in DSH.
Gao
Min
M
Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, and Key Laboratory of Genome Research at Anhui, Hefei, China.
Wang
Pei-Guang
PG
Yang
Sen
S
Hu
Xiao-Li
XL
Zhang
Kai-Yue
KY
Zhu
Ya-Gang
YG
Ren
Yun-Qing
YQ
Du
Wen-Hui
WH
Zhang
Guo-Long
GL
Cui
Yong
Y
Chen
Jian-Jun
JJ
Yan
Kai-Lin
KL
Xiao
Feng-Li
FL
Xu
Shi-Jie
SJ
Huang
Wei
W
Zhang
Xue-Jun
XJ
D000243:Adenosine Deaminase / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D011379:Prognosis
D000243:Adenosine Deaminase