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Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

Norma Beatriz Romero1, Nicole Monnier, Louis Viollet

  • 1Inserm U 582 and Institute of Myology, CHU Pitié-Salpêtrière, Paris, France.

Brain : a Journal of Neurology
|August 26, 2003
PubMed

Insights

Central Core Disease (CCD) linked to RYR1 gene mutations can cause severe fetal akinesia syndrome. This study identifies both autosomal dominant and recessive RYR1 mutations in affected families.

Area of Science:

  • Genetics
  • Neuromuscular Disorders
  • Pediatric Medicine

Background:

  • Central Core Disease (CCD) is a congenital myopathy.
  • Fetal akinesia syndrome presents with severe motor impairment in utero and at birth.
  • RYR1 gene mutations are known causes of CCD.

Observation:

  • Seven patients (fetuses/infants) from six families with CCD and fetal akinesia syndrome were studied.
  • Muscle biopsies confirmed CCD with unique large eccentric cores.
  • Clinical presentation included arthrogryposis, hip dislocation, hypotonia, and skeletal deformities.

Findings:

  • Mutations in the ryanodine receptor (RYR1) gene were identified in three families.
  • Both autosomal recessive (AR) and autosomal dominant (AD) RYR1 mutations were found.
  • Mutations were located in both N-terminal and C-terminal domains of the RYR1 gene.

Implications:

  • This is the first report linking RYR1 gene mutations to severe CCD presenting as fetal akinesia syndrome.
  • Identifies both AR and AD inheritance patterns for this severe phenotype.
  • Highlights the critical role of RYR1 in fetal neuromuscular development.

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