A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent sensory or motor dysfunction. In 85% of HNPP cases the genetic defect is a 1.4 Mb deletion on chromosome 17p11.2, encompassing the PMP22 gene. Point mutations in the PMP22 gene responsible for HNPP phenotypes are rare. We investigated a 17-years-old girl who led to our detecting a novel mutation in PMP22 gene. The mutation was also detected in her father and corresponded to a deletion of one tymidine at position 11 in exon2 (c.11delT). This novel mutation creates a shift on the reading frame starting at codon 4 and leads to the introduction of a premature stop at codon 6.
Muglia
Maria
M
Institute of Neurological Sciences, National Research Council, Mangone (Cosenza), Italy. m.muglia@isn.cnr.it
Patitucci
Alessandra
A
Rizzi
Romana
R
Ungaro
Carmine
C
Conforti
Francesca Luisa
FL
Gabriele
Anna Lia
AL
Magariello
Angela
A
Mazzei
Rosalucia
R
Motti
Luisa
L
Sabadini
Rossella
R
Sprovieri
Teresa
T
Marcello
Norina
N
Quattrone
Aldo
A
D000293:Adolescent; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D010243:Paralysis / Q000150:complications / Q000235:genetics*; D017354:Point Mutation; D011312:Pressure
D009185:Myelin Proteins; C073687:PMP22 protein, human