A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease
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Pelizaeus–Merzbacher disease (PMD) and Pelizaeus–Merzbacher-like disease (PMLD) are hypomyelinating disorders of the central nervous system with a very similar phenotype. PMD is an X-linked disorder caused by mutations in PLP1. PMLD is an autosomal recessive condition caused by mutations in GJA12. We report a 5-year-old girl with a complex neurological syndrome and severe hypomyelination on brain magnetic resonance imaging. She harbored a homozygous 34-bp deletion in the coding region of GJA12. There are no distinctive features for the differential diagnosis of PMD/PMLD. GJA12 should be analyzed in all patients without PLP1 mutations but should also be considered the initial genetic test in women and in patients with consanguineous parents.
KeywordsConnexin 46.6 Pelizaeus–Merzbacher disease Autosomal recessive PLP1 Differential diagnosis
Dr. Salviati is supported by a grant from the Association Française contre les Myopathies (AFM).
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