Dyschromatosis symmetrica hereditaria

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.

Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria

G. L. Zhang, Shi, H. J., Shao, M. H., Li, M., Mu, H. J., Gu, Y., Du, X. F., and Xie, P., Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria, vol. 12, pp. 2794-2799, 2013.

We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed.

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