Central core disease: facial involvement makes the difference

A Brazilian team analyzed the clinical presentation and RYR1 gene variants found by next-generation sequencing (NGS) of 27 individuals with central core myopathy, aged one to 52 years and from 19 unrelated families.

  • Eleven patients from four families had an autosomal dominant form, three patients from two families had an autosomal recessive form, and 13 patients were sporadic cases.
  • Genotypic analysis of 14 families showed that :

. the 11 patients with a dominant form and four sporadic cases had monoallelic variants,

. the three patients with a recessive form and four sporadic cases had biallelic variants.

  • Clinically, only facial muscle involvement was significantly more frequent in carriers of biallelic variants (5/7) than in carriers of monoallelic variants (1/15).

The detection of more pathological RYR1 variants by NGS has direct implications for genetic counseling.

 

Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms. Cotta A, Souza LS, Carvalho E, Feitosa LN, Cunha A Jr, Navarro MM, Valicek J, Menezes MM, Neves SVN, Xavier-Neto R, Vargas AP, Takata RI, Paim JF, Vainzof M. Genes (Basel). 2022 Apr 26;13(5):760.