title: [Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital].
abstract: BACKGROUND
  Charcot-Marie-Tooth (CMT) is the most common hereditary sensory motor neuropathy. Advances in molecular diagnosis have increased the diagnostic possibilities of these patients.
  
  
  METHODS
  Retrospective study of 36 pediatric patients diagnosed with CMT in a tertiary center in 2003-2015.
  
  
  RESULTS
  We found 16 patients were diagnosed by a duplication in PMP22; two cases were diagnosed of hereditary neuropathy with liability to pressure palsies, one with a point mutation in PMP22; a male with a mild demyelinating phenotype, without family history, was diagnosed with GJB1 mutation; in a patient with a peripheral hypotonia at birth and axonal pattern in EMG by mutation in MFN2; a gypsy patient, with consanguineous family, CMT4D, was identified by a mutation in the gene NDRG1; a patient with multiplex congenital arthrogryposis and vocal cord paralysis, whose mother had a scapular-peroneal syndrome, had a congenital spinal muscular atrophy with mild distal axonal neuropathy by mutation in gene TRPV4; three girls, from a gypsy consanguineous family, with axonal CMT with neuromyotonic discharges were diagnosed by a mutation in the gene HINT1; twelve patients haven't molecular diagnosis currently.
  
  
  CONCLUSIONS
  CMT1A predominated in our series (44%), as previous studies. We emphasize the description of a patient with a mutation in TRPV4 recently described as a cause of CMT2C and three cases, of gypsy consanguineous family, with the same mutation in HINT1 gene, recently described as a cause of axonal neuropathy with neuromyotonia, autosomal recessive (AR-CMT2). The proportion of patients without molecular diagnosis is similar to main European series.
authors.affiliation: Hospital Universitario Reina Sofia, Cordoba, Espana.
authors.forename: Joaquín A
authors.initials: JA
authors.lastname: Fernández-Ramos
authors.forename: Eduardo
authors.initials: E
authors.lastname: López-Laso
authors.forename: Rafael
authors.initials: R
authors.lastname: Camino-León
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Gascón-Jiménez
authors.forename: M Dolores
authors.initials: MD
authors.lastname: Jiménez-González
mesh_terms: D000293:Adolescent; D018797:Cell Cycle Proteins / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics; D003241:Consanguinity; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006776:Hospitals, Pediatric / Q000706:statistics & numerical data; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D009185:Myelin Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D012189:Retrospective Studies; D006178:Romani People / Q000235:genetics; D013030:Spain / Q000453:epidemiology; D050916:TRPV Cation Channels / Q000235:genetics; D062606:Tertiary Care Centers / Q000706:statistics & numerical data; D000097002:Gap Junction beta-1 Protein; D000099259:N-myc Downstream-Regulated Gene 1 Protein
chemical_list: D018797:Cell Cycle Proteins; D017630:Connexins; D020558:GTP Phosphohydrolases; D047908:Intracellular Signaling Peptides and Proteins; D024101:Mitochondrial Proteins; D009185:Myelin Proteins; D009419:Nerve Tissue Proteins; D050916:TRPV Cation Channels; D000097002:Gap Junction beta-1 Protein; D000099259:N-myc Downstream-Regulated Gene 1 Protein; C063306:HINT1 protein, human; C073687:PMP22 protein, human; C416986:TRPV4 protein, human; C470018:MFN2 protein, human