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Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura

DEAR EDITOR, The autosomal dominant hyperpigmentation disorder reticulate acropigmentation of Kitamura (RAK; MIM 615537) is characterized by a progressive reticulate hyperpigmentation. Recently, mutations in ADAM10, encoding the disintegrin and metalloproteinase domain-containing protein 10 (ADAM10), were identified in patients with RAK. Here, we studied two simplex patients with RAK of German and Iranian/Hungarian origin, respectively, and a large kindred from Balochistan, partially already described in 1994. All individuals showed the characteristic hallmarks of the disorder (Table 1, Fig. 1a–h). DNA analysis was performed after obtaining approval from the ethics committee of the medical faculty of the University of Bonn and written informed consent from the participants, in accordance with the Declaration of Helsinki principles. By whole-exome sequencing, we identified three novel mutations in ADAM10. In the German simplex patient we found a heterozygous insertion, c.819dupA (p.Arg274Thrfs*9), resulting in a frameshift and premature termination codon. In the Iranian/Hungarian simplex patient, we detected a heterozygous nonsense mutation, c.1940T>A (p.Leu647*), also leading to a premature stop codon. In the affected individuals from the Baloch kindred, DNA analysis revealed a missense mutation, c.1319T>G (p.Ile440Arg), which fully cosegregated