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LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
Cristina Dallabona1, Truus E M Abbink2, Rosalba Carrozzo3
11 Department of Life Sciences, University of Parma, Parma, Italy.
Brain : a Journal of Neurology
|February 26, 2016
Summary
Researchers identified biallelic mutations in the LYRM7 gene causing mitochondrial disease and leukoencephalopathy. Distinct MRI patterns aid in diagnosing this rare genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Neuroscience
Background:
- Mitochondrial respiratory chain complex III deficiency is a rare cause of leukoencephalopathy.
- Molecular genetic diagnosis remains challenging in many patients with complex III deficiency.
Observation:
- Targeted sequencing identified homozygous LYRM7 mutations in patients with leukoencephalopathy and complex III deficiency.
- A distinct magnetic resonance imaging (MRI) pattern of white matter abnormalities was observed in affected patients.
- LYRM7 mutations were found in patients selected based on this specific MRI pattern.
Findings:
- Four patients from three families harbored homozygous LYRM7 mutations, including novel variants.
- Three additional patients with the characteristic MRI pattern also carried LYRM7 mutations.
- Patients exhibited progressive neurological deterioration, developmental delay, and reduced LYRM7 protein levels.
Implications:
- LYRM7 mutations are a significant cause of inherited leukoencephalopathy associated with mitochondrial dysfunction.
- The distinct MRI pattern serves as a valuable diagnostic clue for LYRM7-related disorders.
- This study expands the molecular and clinical spectrum of LYRM7 mutations.
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