Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.

ABSTRACT:

Background

The causative genes for over 60% of inherited peripheral neuropathy (IPN) remain unidentified. This study endeavours to enhance the genetic diagnostic rate in IPN cases by conducting screenings focused on non-coding repeat expansions.

Methods

We gathered data from 2424 unrelated Japanese patients diagnosed with IPN, among whom 1555 cases with unidentified genetic causes, as determined through comprehensive prescreening analyses, were selected for the study. Screening for CGG non-coding repeat expansions in LRP12, GIPC1 and RILPL1 genes was conducted using PCR and long-read sequencing technologies.

Results

We identified CGG repeat expansions in LRP12 from 44 cases, establishing it as the fourth most common aetiology in Japanese IP

SUBMITTER: Hobara T 

PROVIDER: S-EPMC11877035 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature