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

Research output: Contribution to journalArticle

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.

Original languageEnglish
JournalAnnals of Clinical and Translational Neurology
DOIs
Publication statusE-pub ahead of print - Jan 1 2020

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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    Srivastava, S., D’Amore, A., Cohen, J. S., Swanson, L. C., Ricca, I., Pini, A., Fatemi, A., Ebrahimi-Fakhari, D., & Santorelli, F. M. (2020). Expansion of the genetic landscape of ERLIN2-related disorders. Annals of Clinical and Translational Neurology. https://doi.org/10.1002/acn3.51007