LB1721 A novel pathogenic TPCN2 mutation detected for the first time in a Caucasian patient confirms the dominant inheritance of albinism

Albinism follows recessive mode of inheritance and 20 disease-causing genes were implicated in its development. Using 20 gene panel, the genetic background of 11 out of 17 Hungarian patients were elucidated. In patients with unidentified genetic background (n=6) whole exome sequencing was performed. A novel pathogenic mutation (N687S) of the two pore channel two gene (TPCN2)was identified in a 15-year-old patient confirming the dominant type of albinism. Our discovery together with the recently described first Chinese case revolutionizes our thinking about albinism, which has been so far known as a disorder with exclusively recessive inheritance and emphasize that from now either recessive or dominant inheritance should be considered in the everyday clinical practice.