Two novel mutations in SASH1 identified in a familial and a sporadic generalized lentiginosis phenotype in Koreans

Here, we report two novel mutations in SASH1 (p.S510C and p.T525I) identified, respectively, in a family with nonsyndromic generalized lentiginosis, and in a sporadic case with early onset of multiple lentigines on the face and hypomelanosis of Ito in Koreans. Our findings will expand the spectrum of SASH1 mutations in a familial and a sporadic lentiginosis phenotype.