Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

ABSTRACT:

Introduction/aims

Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis-like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies. We report two unrelated individuals with monoallelic stop loss variants affecting the same codon of HNRNPA1.

Methods

Two individuals with unsolved juvenile-onset myopathy were enrolled under approved institutional protocols. Phenotype data were collected and genetic analyses were performed, including whole-exome sequencing (WES).

Results

The two probands (MNOT002-01 and K1440-01) showed a similar onset of slowly progressive extremity

SUBMITTER: Turner J 

PROVIDER: S-EPMC11469940 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature