title: A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
abstract: 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.
authors: Institute of Neurological Sciences, National Research Council, Mangone (Cosenza), Italy. m.muglia@isn.cnr.it
authors: Maria
authors: M
authors: Muglia
authors: Alessandra
authors: A
authors: Patitucci
authors: Romana
authors: R
authors: Rizzi
authors: Carmine
authors: C
authors: Ungaro
authors: Francesca Luisa
authors: FL
authors: Conforti
authors: Anna Lia
authors: AL
authors: Gabriele
authors: Angela
authors: A
authors: Magariello
authors: Rosalucia
authors: R
authors: Mazzei
authors: Luisa
authors: L
authors: Motti
authors: Rossella
authors: R
authors: Sabadini
authors: Teresa
authors: T
authors: Sprovieri
authors: Norina
authors: N
authors: Marcello
authors: Aldo
authors: A
authors: Quattrone
mesh_terms: 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
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human