Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.

ABSTRACT:

Objective

Pathogenic variants in TNNT3, the gene encoding fast skeletal muscle troponin T, were first described in autosomal dominant distal arthrogryposis type 2B2. Recently, a homozygous splice site variant, c.681+1G>A, was identified in a patient with nemaline myopathy and distal arthrogryposis. Here, we describe the second individual with congenital myopathy associated with biallelic TNNT3 variants.

Methods

Clinical exome sequencing data from a patient with molecularly undiagnosed congenital myopathy underwent research reanalysis. Clinical and histopathologic data were collected and compared with the single reported patient with TNNT3-related congenital myopathy.

Results

A homozygous TNNT3 variant, c.481-1G>A, was identified. This varia

SUBMITTER: Calame DG 

PROVIDER: S-EPMC8105884 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature