Mendelian etiologies identified with whole exome sequencing in cerebral palsy.

ABSTRACT:

Objectives

Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single-gene disorders is under-characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP.

Methods

We performed comprehensive phenotyping and WES on a prospective cohort of individuals with cryptogenic CP (who meet criteria for CP; have no risk factors), non-cryptogenic CP (who meet criteria for CP; have at least one risk factor), and CP masqueraders (who could be diagnosed with CP, but have regression/progressive symptoms). We characterized motor phenotypes, ascertained medical comorbidities, and classified brain MRIs. We analyzed WES data using an institutional pipeline.

Results

We included 50 probands in

SUBMITTER: Chopra M 

PROVIDER: S-EPMC8862420 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature