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Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy
Takahiro Hobara1, Masahiro Ando2, Yujiro Higuchi1
1Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Journal of Neurology, Neurosurgery, and Psychiatry
|July 16, 2024
Summary
Genetic testing identified LRP12 CGG repeat expansions as a common cause of inherited peripheral neuropathy (IPN) in Japanese patients. This finding necessitates updated genetic screening strategies for IPN diagnosis.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Over 60% of inherited peripheral neuropathy (IPN) genetic causes remain unknown.
- This study focuses on non-coding repeat expansions to improve IPN diagnosis.
Purpose of the Study:
- To identify novel genetic causes of IPN by screening for non-coding repeat expansions.
- To determine the diagnostic yield of targeting CGG repeat expansions in LRP12, GIPC1, and RILPL1 genes in IPN patients.
Main Methods:
- Screened 1555 Japanese IPN patients with unidentified genetic causes.
- Utilized PCR and long-read sequencing to detect CGG repeat expansions in LRP12, GIPC1, and RILPL1.
Main Results:
- Identified LRP12 CGG repeat expansions in 44 IPN cases, making it a frequent cause.
- Phenotypic analysis revealed distal limb weakness, with some cases presenting as hereditary motor neuropathy or Charcot-Marie-Tooth (CMT).
- No repeat expansions were found in GIPC1 or RILPL1.
Conclusions:
- LRP12 repeat expansions are a significant cause of CMT and IPN.
- Recommends incorporating LRP12 repeat expansion screening into routine clinical practice for IPN diagnosis.
