Expansion of the genetic landscape of ERLIN2-related disorders: Annals of Clinical and Translational Neurology

S. Srivastava, A. D’Amore, J.S. Cohen, L.C. Swanson, I. Ricca, A. Pini, A. Fatemi, D. Ebrahimi-Fakhari, F.M. Santorelli

Research output: Contribution to journalArticlepeer-review

Abstract

ERLIN2-related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where three subjects carried a common homozygous p.Asn292ArgfsX26, associated also with sensorineural hearing loss in one child. One further subject had a de novo p.Gln63Lys and one harbors the homozygous p.Val136Gly because of maternal isodisomy of chromosome 8. Overall, we expanded the clinical and genetic spectrum of ERLIN2-related disorders and we reiterate that autosomal-dominant transmission is a potential mode of inheritance. Future research will elucidate disease mechanisms. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
Original languageEnglish
Pages (from-to)573-578
Number of pages6
JournalAnn. Clin. Transl. Neurol.
Volume7
Issue number4
DOIs
Publication statusPublished - 2020

Keywords

  • er lipid raft associated 2
  • protein
  • unclassified drug
  • arachnoid cyst
  • Article
  • autosomal dominant disorder
  • case report
  • cerebral palsy
  • child
  • clinical article
  • cognition
  • dysarthria
  • dysmetria
  • dystonia
  • epilepsy
  • female
  • frameshift mutation
  • genetic analysis
  • human
  • lipid raft
  • male
  • mental deterioration
  • motor neuron disease
  • perception deafness
  • priority journal
  • school child
  • seizure
  • uniparental disomy
  • whole exome sequencing

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