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Published online before print December 19, 2007, doi:10.1212/01.wnl.0000284828.84464.35)
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Received February 17, 2007
Accepted June 13, 2007

GJA12 mutations are a rare cause of Pelizaeus Merzbacher-like disease

M. Henneke MD, P. Combes MS, S. Diekmann MS, E. Bertini MD, K. Brockmann MD, A. P. Burlina MD, PhD, J. Kaiser BS, A. Ohlenbusch PhD, B. Plecko MD, D. Rodriguez MD, PhD, O. Boespflug-Tanguy MD, PhD, and J. Gärtner MD*

From the Department of Pediatrics and Pediatric Neurology (M.H., S.D., K.B., J.K., A.O., J.G.), Georg August University, Göttingen, Germany; INSERM, Université d’Auvergne, UMR 384, Faculté de Médecine Clermont-Ferrand, and CHU Clermont-Ferrand, Department of Human Genetics (P.C., O.B.-T.), University Hospital, Clermont-Ferrand, France; Department of Molecular Medicine (E.B.), Ospedale Pediatrico Bambino Gesu, Scientific Institute, IRCCS, Rome, Italy; Department of Neuroscience (A.P.B.), Neurological Clinic, University Hospital, Padua, Italy; Department of General Pediatrics (B.P.), University of Graz, Austria; and INSERM, UMR 546, Université Paris Pitié Salpétrière, and AP-HP, Department of Pediatric Neurology (D.R.), Hopital A. Trousseau, Paris, France.


* To whom correspondence should be addressed. E-mail: gaertnj{at}med.uni-goettingen.de.

ABSTRACT

Background: Pelizaeus Merzbacher-like disease (PMLD) is a genetically heterogeneous disorder within the group of hypomyelinating leukoencephalopathies. Mutations of the gap junction protein {alpha}12 (GJA12) gene are known to cause one autosomal recessive PMLD form. Few patients with GJA12 mutated PMLD have been reported, and to date, the frequency as well as the genotypic and phenotypic spectrum of GJA12 related PMLD is unclear.

Methods: We report mutation analysis of the GJA12 gene in a clinical and radiologic well-characterized multiethnic cohort of 193 patients with PMLD from 182 families.

Results and Conclusions: Only 16 patients (8.3%) from 14 families (7.7%) carry GJA12 mutations including five families where we detected only one mutated allele. Among those, we identified 11 novel alterations. Thus, GJA12 mutations are a rather rare cause for Pelizaeus Merzbacher-like disease. The GJA12 mutated patients’ clinical phenotype was evaluated and is overall comparable to the clinical features seen in mild forms of proteolipid protein 1 (PLP1) related disorder but with better cognition and earlier signs of axonal degeneration.




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