A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient

[1] In this study, we investigated the members of a four-generation family from Jiangsu province of China with typical dyschromatosis symmetrica hereditaria [Figure 1]a. The proband of this family is a 60-year-old male with a history, from 6 to 7 months age, of hyperpigmented and hypopigmented macul...

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Published in:Indian journal of dermatology, venereology, and leprology venereology, and leprology, 2015-05, Vol.81 (3), p.327
Main Authors: Li, Zhi-Liang, Zhang, Guo-Yi, Hui, Yun, Yu, Rui-Xing, Li, Qi, Xu, Hao-Xiang, Li, Cheng-Rang
Format: Article
Language:English
Subjects:
Adenosine Deaminase - genetics
Asian Continental Ancestry Group - genetics
Enzymes
Gene mutations
Genetic aspects
Humans
Male
Middle Aged
Mutation
Mutation, Missense - genetics
Pedigree
Pigmentation disorders
Pigmentation Disorders - congenital
Pigmentation Disorders - diagnosis
Pigmentation Disorders - genetics
Risk factors
RNA-Binding Proteins - genetics
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Summary:[1] In this study, we investigated the members of a four-generation family from Jiangsu province of China with typical dyschromatosis symmetrica hereditaria [Figure 1]a. The proband of this family is a 60-year-old male with a history, from 6 to 7 months age, of hyperpigmented and hypopigmented macules on the distal extremities [Figure 1]b and c. The typical lesions were also observed on the knees, elbows [Figure 1]d, and buttocks [Figure 1]e. After informed consent, we collected peripheral blood from the patient and sequenced all exons of the ADAR1 gene.
ISSN:0378-6323
0973-3922
1998-3611
DOI:10.4103/0378-6323.155560