Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.

ABSTRACT:

Background

We refine the clinical spectrum of FOXG1 syndrome and expand genotype-phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry.

Methods

The FOXG1 syndrome online patient registry allows for remote collection of caregiver-reported outcomes. Inclusion required documentation of a (likely) pathogenic variant in FOXG1. Caregivers were administered a questionnaire to evaluate clinical severity of core features of FOXG1 syndrome. Genotype-phenotype correlations were determined using nonparametric analyses.

Results

We studied 122 registry participants with FOXG1 syndrome, aged < 12 months to 24 years. Caregivers described delayed or absent developmental milestone attainment, seizures (61%), and movement disorders (5

SUBMITTER: Brimble E 

PROVIDER: S-EPMC10262363 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature