Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

ABSTRACT:

Background

Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical management. Our objective was to find novel pathogenic variants and genes associated with congenital myopathies and to decrease diagnostic odysseys and dead-end.

Methods

To identify pathogenic variants and genes implicated in congenital myopathies, we established and conducted the MYOCAPTURE project from 2009 to 2018 to perform exome sequencing in a large cohort of 310 families partially excluded for the main known genes.

Results

Pathogenic variants were identified in 156 families (50%), among which 123 families (40%) had a conclusi

SUBMITTER: de Feraudy Y 

PROVIDER: S-EPMC11234750 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature