Annals of Clinical and Translational Neurology (Apr 2020)

Expansion of the genetic landscape of ERLIN2‐related disorders

  • Siddharth Srivastava,
  • Angelica D’Amore,
  • Julie S. Cohen,
  • Lindsay C. Swanson,
  • Ivana Ricca,
  • Antonella Pini,
  • Ali Fatemi,
  • Darius Ebrahimi‐Fakhari,
  • Filippo M. Santorelli

DOI
https://doi.org/10.1002/acn3.51007
Journal volume & issue
Vol. 7, no. 4
pp. 573 – 578

Abstract

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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.