BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy
Saleh Albanyan1, Amal Al Teneiji1, Nasim Monfared1
1Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
This study identifies a new patient with BCAP31-associated encephalopathy, a rare condition causing developmental delay and neurological issues. Genetic testing confirmed a BCAP31 variant, highlighting its role in deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- BCAP31 protein facilitates transmembrane protein export from the endoplasmic reticulum.
- Pathogenic BCAP31 variants cause deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome in males.
- DDCH syndrome presents with global developmental delay, dystonia, deafness, and dysmorphic features.
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