Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria.

Abstract

BACKGROUND:

Novel mutations in adenosine deaminase acting on RNA 1 gene (ADAR1) are responsible for dyschromatosis symmetrica hereditaria (DSH). DSH patients display a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the extremities, and freckle-like macules on the face.

AIMS:

To provide new evidence for further study of the etiopathogenisis of DSH.

METHODS:

Genomic DNA was extracted and used as a template for the polymerase chain reaction (PCR) amplification of all 15 coding exons as well as intron-exon boundaries of ADAR1. The PCR products were sequenced directly.

RESULTS:

We identified eight mutations of ADAR1 in four Chinese pedigrees and four individual patients, which were c.2722G>T, p.(Asp908Tyr), c.1657delA, p.(Ser553fs), c.2563_2564delCT, p.(Leu855fs), c.526T>G, p.(Leu176Val) as well as four previously reported mutations c. 3363_3364insT, p.(Lys1122fs), c. 2865_2866delGT, p.(Val955fs), c.1630C>T, p.(Arg544X), and c.2894C>T, p.(Pro965Leu). In silico analysis predicted that all the mutations reported were pathogenic.

LIMITATIONS:

We did not study how ADAR1 played its role in DSH. So, the exact pathogenic mechanism of ADAR1 in DSH patients wasn't clarified in this study.

CONCLUSION:

We found four novel ADAR1 mutations in this study. Our results enlarge the database on ADAR1 mutations associated with DSH.

• Authors: Wei Hu, Xian Shi, Hongwen Li, Luzhu Chen, Tingmei Wang, Yingying Dong, Yanhong Zhang, Man Hu, Xiaoli Liu, Caie Zhang, Dongxian Liu, Yunhua Deng
• Journal: Indian journal of dermatology, venereology and leprology (Indian J Dermatol Venereol Leprol) 2019 Jan-Feb Vol. 85 Issue 1 Pg. 69-73 ISSN: 0973-3922 [Electronic] United States
• PMID: 29536976 (Publication Type: Journal Article)

Chemical References

• RNA-Binding Proteins
• ADAR protein, human
• Adenosine Deaminase

Topics

• Adenosine Deaminase (genetics)
• Asian People (genetics)
• Female
• Humans
• Male
• Mutation (genetics)
• Pedigree
• Pigmentation Disorders (congenital, diagnosis, genetics)
• RNA-Binding Proteins (genetics)