A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT.
BACKGROUND
Mutations in the periaxin (PRX) gene cause autosomal recessive demyelinating neuropathy Charcot-Marie-Tooth (CMT) type 4F. To date, 10 non-sense or frameshift PRX mutations have been reported in patients with early-onset neuropathy and further disease course consistent with either Dejerine-Sottas neuropathy or slow-progressive demyelinating CMT.


METHODS
We sequenced 59 patients from 55 Czech families including four unrelated patients of Romani (Gypsy) origin with early-onset CMT displaying decreased nerve conduction velocities.


RESULTS
We identified a novel homozygous mutation c.3286_3356del71 (K1095fsX18) in one Romani patient showing very slow disease progression. Amongst non-Romani Czech CMT patients, PRX mutations have been proven to be very rare.
Baránková
L
L
Department of Neurology, 2nd School of Medicine, Charles University Prague, Prague, Czech Republic. lbaranek@email.cz
Sisková
D
D
Hühne
K
K
Vyhnálková
E
E
Sakmaryová
I
I
Bojar
M
M
Rautenstrauss
B
B
Seeman
P
P
D017668:Age of Onset; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D006178:Romani People / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
D008565:Membrane Proteins; C086745:periaxin