A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease
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- Salviati, L., Trevisson, E., Baldoin, M.C. et al. Neurogenetics (2007) 8: 57. doi:10.1007/s10048-006-0065-x
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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.