Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.

ABSTRACT:

Background

Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles. A disease model has been developed that postulates that failure in somatic repression of the transcription factor DUX4 embedded in the D4Z4 repeat on chromosome 4q causes FSHD. However, due to the position of the D4Z4 repeat close to the telomere and the complex genetic and epigenetic aetiology of FSHD, there is ongoing debate about the transcriptional deregulation of closely linked genes and their involvement in FSHD.

Method

Detailed genetic characterisation and gene expression analysis of patients with clinically confirmed FSHD and control individuals.

Results

Identification of two FSHD f

SUBMITTER: Lemmers RJLF 

PROVIDER: S-EPMC8273184 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature