A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome

Abstract

A novel missense mutation in AT-hook 1 domain of MeCP2 was identified in a patient with atypical RTT. Clinical data and <i>in vitro</i> experiment result imply that R190H mutation in AT-hook1 may cause dysfunction of MeCP2 and be a pathogenic variant.