Abstract for presentation at 11th International Congress of Human Genetics

Autosomal dominant psoriasiform seborrhea-like dermatitis caused by a mutation in PSORAEL, a novel putative transcription factor

  • Mr Ramon Birnbaum, Ben-Gurion University, Israel
  • Dr Alex Zvulunov, Schneider Children's Medical Center, Israel
  • Dr Dafna Hallel-Halevy, Soroka Medical Center, Israel
  • Dr Rivka Ofir, Ben-Gurion University, Israel
  • Dr Emanuella Cagnano, Soroka Medical Center, Israel
  • Dr Dan Geiger, Technion, Israel
  • Ms Yael Feferman, Ben-Gurion University, Israel
  • Dr Ohad Birk, Ben-Gurion University and Soroka Medical Center, Israel

    • Seborrheic dermatitis (SD) and Psoriasis are common chronic papulosquamous dermatoses. Occasionally, distinction between these entities can be obscured by overlapping clinical features, particularly when the manifestations are limited to the scalp and face. Hence, the term Sebopsoriasis (SP) had been applied in such cases. A Jewish family of Moroccan descent presented with autosomal dominant psoriasiform seborrhea-like dermatosis affecting 44 individuals in 5 generations. Through genome wide linkage analysis we mapped the disease gene to a 0.5cM region (maximum lod score 8.8 at theta=0), within a locus previously associated with psoriasis. Sequencing of candidate genes within that locus identified a mutation in a novel putative transcription factor, we named PSORAEL. The mutation fully abrogates the putative active domain of the encoded protein. The gene is normally expressed in keratinocytes but not in fibroblasts, suggesting that the primary event leading to the disease is in keratinocytes. PSORAEL is the first gene shown to be associated with SD, and the first gene associated with mendelian heredity of a non-arthritic variant of psoriasis.

    Conference Organiser - ICMS Pty Ltd