Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.

ABSTRACT:

Background

This study aimed to investigate the new genetic etiologies of Rett syndrome (RTT) or Rett-like phenotypes.

Methods

Targeted next-generation sequencing (NGS) was performed on 44 Chinese patients with RTT or Rett-like phenotypes, in whom genetic analysis of MECP2, CDKL5, and FOXG1 was negative.

Results

The detection rate was 31.8% (14/44). A de novo pathogenic variant (c.275_276ins AA, p. Cys92*) of KIF1A was identified in a girl with all core features of typical RTT. A patient with atypical RTT was detected having de novo GRIN1 pathogenic variant (c.2337C > A, p. Val793Phe). Additionally, compound heterozygous pathogenic variants of PPT1 gene were detected in a girl, who initially displayed typical RTT features, but progressed into neuronal ceroid lipofuscin

SUBMITTER: Wang J 

PROVIDER: S-EPMC6825848 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature