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

Annals of clinical and translational neurology 2020 Apr

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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.

Citation

Siddharth Srivastava, Angelica D'Amore, Julie S Cohen, Lindsay C Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi-Fakhari, Filippo M Santorelli. Expansion of the genetic landscape of ERLIN2-related disorders. Annals of clinical and translational neurology. 2020 Apr;7(4):573-578