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

ABSTRACT:

Background

Mutations in Methyl-CpG binding protein 2 (MECP2) have been identified as the disease-causing mutations in Rett Syndrome (RTT). However, no mutation in the AT-hook 1 domain of MECP2 has been reported in RTT yet. The function of AT-hook 1 domain of MECP2 has not been described either.

Methods

The clinical and radiological features of a girl with progressive hyperactivity and loss of acquired linguistic and motor functions were presented. Next generation sequencing was used to screen the causative gene. Effect of the mutant protein on histone 3 methylation was assessed in vitro experiment.

Results

The patient was diagnosed with an atypical RTT at the age of nine. Magnetic resonance imaging revealed a loss of whole-brain volu

SUBMITTER: Zhou X 

PROVIDER: S-EPMC5669878 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature