Expansion of the genetic landscape of ERLIN2-related disorders

Ann Clin Transl Neurol. 2020 Apr;7(4):573-578. doi: 10.1002/acn3.51007. Epub 2020 Mar 8.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Cohort Studies
  • Consanguinity
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Movement Disorders / genetics*
  • Movement Disorders / physiopathology
  • Pedigree
  • Phenotype


  • ERLIN2 protein, human
  • Membrane Proteins