Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review

BACKGROUND: -related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied. METHODS: variants in previous reports. The clinical and genetic features of all the described individuals were analysed and summarised. RESULTS: variants (85%) resulted in amino acid changes or the truncation of the 'RING between RING' (RBR) domain or C-terminal extension. CONCLUSION: -related disorder influence the RBR domain or C-terminal extension of RNF216.