Ontology highlight
ABSTRACT:
SUBMITTER: Wang J
PROVIDER: S-EPMC6825848 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Wang Jiaping J Zhang Qingping Q Chen Yan Y Yu Shujie S Wu Xiru X Bao Xinhua X
Molecular genetics & genomic medicine 20190911 11
<h4>Background</h4>This study aimed to investigate the new genetic etiologies of Rett syndrome (RTT) or Rett-like phenotypes.<h4>Methods</h4>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.<h4>Results</h4>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 R ...[more]