Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.

ABSTRACT:

Background

We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR).

Methods

Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing.

Results

Four FOXG1 mutations were detected in four patients (three with RTT and one with RTT-like MR), including one previously described mutation and three novel mutations. These mutations included one missense and three micro-insertion mutations. Overall, 0.7% (3/418) of patients who had RTT in our cohort had FOXG1 mutations. All patients had early global developmental delays followed later by severe ment

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC5575846 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature