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Neurogenetics. 2007 Jan;8(1):57-60. Epub 2006 Oct 10.

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

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  • 1Clinical Genetics, Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128, Padua, Italy,


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.

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