title: Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
abstract: Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically. Targeted disease specific gene panel massively parallel sequencing (MPS) seems to be a useful tool in diagnosis of disorders with high genetic heterogeneity.
  
  
  
  In our study, we have designed, validated and updated our own custom gene panel of all known genes associated with IPN. One hundred and ninety-eight patients have been tested so far. Only patients in whom mutations in more common causes or relevant genes have already been excluded were enrolled. Five consecutive panel designs were prepared according to recent literature search, the last one covering ninety-three genes. Each patient was tested only once. All data were evaluated with at least two different pipelines.
  
  
  
  In summary, causative mutation has been found in fifty-one patients (26 %). The results were inconclusive in thirty-one (16 %) patients. No variants of likely significance to IPN were found in one hundred and sixteen (58 %) patients.
  
  
  
  MPS gene panel enables testing of all known IPN causes at once with high coverage and at an affordable cost making it truly a method of choice also in IPN. Gene panel testing results in several interesting results and findings.
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. petra.lassuthova@gmail.com.
authors.forename: Petra
authors.initials: P
authors.lastname: Laššuthová
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Dana
authors.initials: D
authors.lastname: Šafka Brožková
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Marcela
authors.initials: M
authors.lastname: Krůtová
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Neupauerová
authors.affiliation: Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Haberlová
authors.affiliation: Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Radim
authors.initials: R
authors.lastname: Mazanec
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Pavel
authors.initials: P
authors.lastname: Dřímal
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Pavel
authors.initials: P
authors.lastname: Seeman
mesh_terms: D017668:Age of Onset; D018797:Cell Cycle Proteins / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics; D017630:Connexins / Q000235:genetics; D056445:Cytoplasmic Dyneins / Q000235:genetics; D004265:DNA Helicases; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D064251:Multifunctional Enzymes; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics*; D020365:RNA Helicases / Q000235:genetics; D000097002:Gap Junction beta-1 Protein; D000099259:N-myc Downstream-Regulated Gene 1 Protein
chemical_list: D018797:Cell Cycle Proteins; D017630:Connexins; D056445:Cytoplasmic Dyneins; D004265:DNA Helicases; D047908:Intracellular Signaling Peptides and Proteins; D064251:Multifunctional Enzymes; D020365:RNA Helicases; D000097002:Gap Junction beta-1 Protein; D000099259:N-myc Downstream-Regulated Gene 1 Protein; C511240:DYNC1H1 protein, human; C484368:SETX protein, human
keywords: Charcot-Marie-Tooth; Inherited peripheral neuropathies; Mutation; Phenotype; Targeted gene panel testing