title: Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
abstract: The transcription factor EGR2 is expressed in Schwann cells, where it controls peripheral nerve myelination. Mutations of EGR2 have been found in patients with congenital hypomyelinating neuropathy or Charcot-Marie-Tooth disease type 1D. In a patient with congenital amyelinating neuropathy, we observed pathological abnormalities recapitulating the peripheral nervous system phenotype of homozygous Egr2-null mice. This patient, born from consanguineous parents, showed no EGR2 immunoreactivity in Schwann cells and harbored a homozygous 10.7-kilobase-long deletion encompassing a myelin-specific enhancer of EGR2. This regulatory mutation is the first genetic abnormality associated with congenital amyelinating neuropathy in humans.
authors.affiliation: National Referral Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France. benoit.funalot@unilim.fr
authors.forename: Benoît
authors.initials: B
authors.lastname: Funalot
authors.forename: Piotr
authors.initials: P
authors.lastname: Topilko
authors.forename: Maria Antonia Ramos
authors.initials: MA
authors.lastname: Arroyo
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
authors.forename: E Tessa
authors.initials: ET
authors.lastname: Hedley-Whyte
authors.forename: Maria E
authors.initials: ME
authors.lastname: Yoldi
authors.forename: Laurence
authors.initials: L
authors.lastname: Richard
authors.forename: Estelle
authors.initials: E
authors.lastname: Touraille
authors.forename: Mathieu
authors.initials: M
authors.lastname: Laurichesse
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Khalifa
authors.forename: Jasmine
authors.initials: J
authors.lastname: Chauzeix
authors.forename: Adama
authors.initials: A
authors.lastname: Ouedraogo
authors.forename: Didier
authors.initials: D
authors.lastname: Cros
authors.forename: Corinne
authors.initials: C
authors.lastname: Magdelaine
authors.forename: Franck G
authors.initials: FG
authors.lastname: Sturtz
authors.forename: J Andoni
authors.initials: JA
authors.lastname: Urtizberea
authors.forename: Patrick
authors.initials: P
authors.lastname: Charnay
authors.forename: Federico Garcia
authors.initials: FG
authors.lastname: Bragado
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Vallat
mesh_terms: D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology*; D051767:Early Growth Response Protein 2 / Q000235:genetics*; D004742:Enhancer Elements, Genetic / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009186:Myelin Sheath / Q000473:pathology*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2