Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease

• Published in: Journal of child neurology Vol. 29; no. 7; p. 924
• Main Authors: Laššuthová, Petra, Žaliová, Markéta, Inoue, Ken, Haberlová, Jana, Sixtová, Klára, Sakmaryová, Iva, Paděrová, Kateřina, Mazanec, Radim, Zámečník, Josef, Šišková, Dana, Garbern, Jim, Seeman, Pavel
• Format: Journal Article
• Language: English
• Published: United States 01.07.2014
• Subjects: Autopsy; Child; Child, Preschool; DNA Mutational Analysis; Family Health; Female; Humans; Male; Middle Aged; Mutation - genetics; Myelin Proteolipid Protein - genetics; Neural Conduction - genetics; Pelizaeus-Merzbacher Disease - genetics; Pelizaeus-Merzbacher Disease - pathology; Pelizaeus-Merzbacher Disease - physiopathology; Phenotype; RNA Splice Sites - genetics; PLP1; splice-site mutations; Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease is a severe X-linked disorder of central myelination caused by mutations affecting the proteolipid protein gene. We describe 3 new PLP1 splicing mutations, their effect on splicing and associated phenotypes. Mutation c.453_453+6del7insA affects the exon 3B donor splice s...