Genetic disorders of nuclear receptors

Introduction It has been almost 30 years since the first human nuclear receptor (NR) disorders were characterized at the molecular level (Figure 1). Since then, disorders associated with genetic defects in 20 of the 48 known human NRs have been identified (Figure 1 and Tables 1 and 2). In this Review we provide a brief overview of the range of human NR-associated diseases reported to date and highlight some of the key pathogenic mechanisms involved (Figure 2A). Our focus is on well-established monogenic germline disorders. We will not cover the role of somatic NR variations or fusion genes in cancer, nor associations found in GWAS.