Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13-15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein PO showed a new point mutation in exon 2, which resulted in substitution of a phenylalanine for serine at amino acid position 63 of PO. This is the third mutation reported at this codon, the two previously described leading to CMT1B (serine 63 deletion), or to Dejerine-Sottas disease (cysteine for serine 63 substitution), suggesting that different phenotypes can result from alteration of a single amino acid, depending on the type of the change involved.
Blanquet-Grossard
F
F
Laboratoire de Neurogénétique Moléculaire, URA 1488 CNRS, Université de Paris, France.
Pham-Dinh
D
D
Dautigny
A
A
Latour
P
P
Bonnebouche
C
C
Corbillon
E
E
Chazot
G
G
Vandenberghe
A
A
D000328:Adult; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017931:DNA Primers; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018993:Myelin P0 Protein / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*; D010525:Peripheral Nerves; D017354:Point Mutation; D012694:Serine
D017931:DNA Primers; D018993:Myelin P0 Protein; D009185:Myelin Proteins; C073687:PMP22 protein, human; D012694:Serine