title: [Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].
abstract: OBJECTIVE
  To analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2. and present the principles of diagnosis and genetic counselling.
  
  
  METHODS
  Patients were selected on the basis of the results of the clinical/genealogical analysis, neurological examination and ENMG study. Genomic DNA was isolated from peripheral blood leukocytes.
  
  
  CONCLUSIONS
  DNA diagnosis was performed in 5 families (the PMP22 deletion was found in 9 patients). The authors described clinical and electrophysiological characteristics and presented a diagnostic protocol. Identification of the mutation makes it possible to confirm the clinical diagnosis, assess genetic risks for the outcome and perform a prenatal DNA diagnosis in HNPP families.
authors.affiliation: Republican Scientific and Practical Medical Center 'Mother and Child', Minsk, Belarus.
authors.forename: T V
authors.initials: TV
authors.lastname: Asadchuk
authors.affiliation: Republican Scientific and Practical Medical Center 'Mother and Child', Minsk, Belarus.
authors.forename: N V
authors.initials: NV
authors.lastname: Rumiantseva
authors.affiliation: Republican Scientific and Practical Medical Center 'Mother and Child', Minsk, Belarus.
authors.forename: I V
authors.initials: IV
authors.lastname: Naumchik
authors.affiliation: Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus.
authors.forename: S A
authors.initials: SA
authors.lastname: Likhachev
authors.affiliation: Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus.
authors.forename: I V
authors.initials: IV
authors.lastname: Pleshko
authors.affiliation: Belorussian Medical Academy of Post-Graduate Education, Minsk, Belarus.
authors.forename: L V
authors.initials: LV
authors.lastname: Shalkevich
authors.affiliation: Belorussian Medical Academy of Post-Graduate Education, Minsk, Belarus.
authors.forename: I V
authors.initials: IV
authors.lastname: Jevneronok
authors.affiliation: Republican Scientific and Practical Medical Center 'Mother and Child', Minsk, Belarus.
authors.forename: J P
authors.initials: JP
authors.lastname: Kachan
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D056426:Genetic Loci; D005819:Genetic Markers; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D002094:Republic of Belarus; D012306:Risk; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D009185:Myelin Proteins; C073687:PMP22 protein, human