HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.

ABSTRACT:

Background

Recessive loss-of-function mutations in HINT1 are associated with predominantly motor axonal peripheral neuropathy with neuromyotonia. Twenty-four distinct pathogenic variants are reported all over the world, including four confirmed founder variations in Europe and Asia. The majority of patients carry the ancient Slavic founder variant c.110G>C (p.Arg37Pro) that shows a distribution gradient from east to west throughout Europe.

Methods

We report a case of HINT1 neuropathy in South America, identified by massive parallel sequencing of a neuropathy gene panel. To investigate the origin of the variant, we performed haplotyping analysis.

Results

A Brazilian adolescent presented with recessive axonal motor neuropathy with asymmetric onset and fasciculations. Ne

SUBMITTER: de Aguiar Coelho Silva Madeiro B 

PROVIDER: S-EPMC8580089 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature