ADAR1

A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria

C. Y. Zhu, Zhu, K. J., Zhou, Y., and Fan, Y. M., A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria, vol. 12, pp. 2858-2862, 2013.

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis, characterized by a mixture of hyperpigmented and hypopigmented macules that are mainly present on the dorsal portions of the extremities. The DSH locus was mapped to chromosome 1q11-q12 and, subsequently, pathogenic mutations in the double-stranded RNA-specific adenosine deaminase (ADAR1) gene were identified. We performed a mutational analysis of the ADAR1 gene in a Chinese family that included three individuals affected with typical DSH phenotypes.

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