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 dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère. 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.