[Identification of a novel c.2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria].
Copyright policy )[Identification of a novel c.2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria].
To explore the genetic etiology of two unrelated patients with dyschromatosis symmetrica hereditaria.Variant analysis of the ADAR gene was carried out by Sanger sequencing.Patient 1 was found to harbor a c.2633_2634delCT (p.Ser878fs) in exon 8 of the ADAR gene. The same variant was not found among 100 unrelated individuals. No pathogenic variant of the ADAR gene was found in patient 2. Functional prediction of the ADAR c.2633_2634delCT (p.Ser878fs) variant indicated it to be pathogenic by losing a catalytic structural domain.The c.2633_2634delCT (p.Ser878fs) variant of the ADAR gene probably underlies the pathogenesis of DSH in one of the patients.
- Sun Yat-sen University China (People's Republic of)
- Sun Yat-sen Memorial Hospital China (People's Republic of)
Adenosine Deaminase, Mutation, Humans, RNA-Binding Proteins, Tomography, X-Ray Computed, Pigmentation Disorders, Pedigree
Adenosine Deaminase, Mutation, Humans, RNA-Binding Proteins, Tomography, X-Ray Computed, Pigmentation Disorders, Pedigree
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