Expanded spectrum of Pelizaeus-Merzbacher-like disease: Literature revision and description of a novel GJC2 mutation in an unusually severe form

European Journal of Human Genetics

Volumn 21, Issue 1, 2013, Pages 34-39

  Biancheri, Roberta ^a   Rosano, Camillo ^b   Denegri, Laura ^a   Lamantea, Eleonora ^c   Pinto, Francesca ^a   Lanza, Federica ^a   Severino, Mariasavina ^a   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

GJC2 mutation; magnetic resonance imaging; molecular modelling; Pelizaeus Merzbacher like disease

Indexed keywords

CONNEXIN 47; GLUTAMIC ACID; LYSINE;

ARTICLE; CASE REPORT; CONGENITAL NYSTAGMUS; FEMALE; GAP JUNCTION; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; PROTEIN FUNCTION;

BRAIN; CONNEXINS; FEMALE; GENETIC ASSOCIATION STUDIES; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INFANT; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PELIZAEUS-MERZBACHER DISEASE; PROTEIN CONFORMATION;

EID: 84871204629     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.93     Document Type: Article

References (27)

1. Garbern JY, Hobson GH: PLP1-Related Disorders. GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle 1993. http://www.genetests.org (Updated 16 March 2010).
2. Uhlenberg B, Schuelke M, Ruschendorf F et al: Mutations in the gene encoding gap junction protein a12 (Connexin 46.6) cause Pelizaeus-Merzbacher- like disease. Am J Hum Genet 2004; 75: 251-260.
3. Kleopa KA, Orthmann JL, Enriquez A, Paul DL, Scherer SS: Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes. Glia 2004; 47: 346-357.
4. Bugiani M, Al Shahwan S, Lamantea E et al: GJA12 mutations in children with recessive hypomielinating leukoencephalopathy. Neurology 2006; 67: 273-279.
5. Salviati L, Trevisson E, Baldoin MC et al: A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. Neurogenetics 2007; 8: 57-60.
6. Wolf NI, Cundall M, Rutland P et al: Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. Neurogenetics 2007; 8: 39-44.
7. Henneke M, Combes P, Diekmann S et al: GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology 2008; 70: 748-754.
8. Sartori S, Burlina AB, Salviati L et al: Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. Eur J Paediatr Neurol 2008; 12: 348-350.
9. Wang J, Wang H, Wang Y, Chen T, Wu X, Jiang Y: Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. Brain Dev 2010; 32: 236-243.
10. Osaka H, Hamanoue H, Yamamoto R et al: Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. Ann Neurol 2010; 68: 250-254.
11. Combes P, Kammoun N, Monnier A et al: Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease. Ann Neurol 2012; 71: 146-148.
12. Henneke M, Gegner S, Hahn A et al: Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. Neurology 2010; 74: 1785-1789.
13. Meyer E, Kurian MA, Morgan NV et al: Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. Mol Genet Metab 2011; 104: 637-643.
14. Orthmann-Murphy JL, Salsano E, Abrams CK et al: Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 2009; 132: 426-438.
15. Cailloux F, Gauthier-Barichard F, Mimault C et al: Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet 2000; 8: 837-845.
16. Orthmann-Murphy JL, Enriquez AD, Abrams CK, Scherer SS: Loss-of-function connexin47 mutations cause Pelizaeus-Merzbacher-like disease. Mol Cell Neurosci 2007; 34: 629-641.
17. Sali A, Blundell TL: Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 1993; 234: 779-815.
18. Maeda S, Nakagawa S, Suga M et al: Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature 2009; 458: 597-602.
19. Emsley P, Cowtan K: Coot: model-building tools for molecular graphics. Acta Crystal-logr D Biol Crystallogr 2004; 60(Pt 12 Pt 1): 2126-2132.
20. Pettersen EF, Goddard TD, Huang CC et al: UCSF Chimera-A visualization system for exploratory research and analysis. J Comput Chem 2004; 25: 1605-1612.
21. Ruf N, Uhlenberg B: Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. Am J Med Genet Part B 2008; 150B: 226-232.
22. Steenweg ME, Vanderver A, Blaser S et al: Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010; 133: 2971-2982.
23. Kovacs JA, Baker KA, Altenberg GA, Abagyan R, Yeager M: Molecular modeling and mutagenesis of gap junction channels. Prog Biophys Mol Biol 2007; 94: 15-28.
24. Biebermann H, Schoneberg T, Schulz A et al: A conserved tyrosine residue (Y601) in transmembrane domain 5 of the human thyrotropin receptor serves as a molecular switch to determine G-protein coupling. FASEB J 1998; 12: 1461-1471.
25. Gazit E: A possible role for pi-stacking in the self-assembly of amyloid fibrils. FASEB J 2002; 16: 77-83.
26. Sal-Man N, Gerber D, Bloch I, Shai Y: Specificity in transmembrane helix-helix interactions mediated by aromatic residues. J Biol Chem 2007; 282: 19753-19761.
27. The UniProt Consortium. Ongoing and future developments at the Universal Protein Resource. Nucleic Acids Res 2011; 39: D214-D219.