Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.

ABSTRACT:

Background

Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole-exome sequencing (WES) is introducing rapid changes on the genetic diagnosis of NMDs. We aimed to investigate the diagnostic value of WES for pediatric-onset NMDs.

Methods

We applied integrated diagnostic approach and performed WES in 50 Chinese subjects (30 males, 20 females) with undiagnosed pediatric-onset NMDs despite previous specific tests. The patients were categorized in four subgroups according to phenotyping and investigation findings. Variants on NMDs gene list and open exome analysis for those with initial negative findings were ident

SUBMITTER: Tsang MHY 

PROVIDER: S-EPMC7216811 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature