Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
The spectrum of Charcot-Marie-Tooth (CMT) phenotypes segregating with mutations in the Myelin Protein Zero (MPZ) gene is wide and ranges from congenital hypomyelinating neuropathy (CHN) through demyelinating form of CMT to the axonal type of CMT disease. Within 94 MPZ gene mutations reported up to now, only a few were identified in the exon 4 of the MPZ gene. In this study we have identified a novel Leu190fs mutation in the MPZ gene. The Leu190fs mutation was found in a 14-year-old girl suffering from Charcot-Marie-Tooth type 1 disease (CMT1) with onset in early infancy. Similarly to the other MPZ gene frame-shift mutations reported as far the Leu190fs seems to have a dominant negative effect.
Kochański
Andrzej
A
Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02-106 Warsaw, Poland. andko@cmdik.pan.pl
Kabzińska
Dagmara
D
Drac
Hanna
H
Ryniewicz
Barbara
B
Rowińska-Marcińska
Katarzyna
K
Hausmanowa-Petrusewicz
Irena
I
D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005500:Follow-Up Studies; D016368:Frameshift Mutation; D005799:Genes, Dominant; D006801:Humans; D007930:Leucine / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D018993:Myelin P0 Protein; D009185:Myelin Proteins; C073687:PMP22 protein, human; D007930:Leucine