Expansion of the genetic landscape of ERLIN2‐related disorders. Issue 4 (8th March 2020)

• Record Type: Journal Article
• Authors: Srivastava, Siddharth; D'Amore, Angelica; Cohen, Julie S.; Swanson, Lindsay C.; Ricca, Ivana; Pini, Antonella; Fatemi, Ali; Ebrahimi‐Fakhari, Darius; Santorelli, Filippo M.
• Is Part Of: Annals of clinical and translational neurology. Volume 7:Issue 4(2020)
• Page Start: 573
• Page End: 578
• Publication Date: 2020-03-08
• Subjects: Nervous system -- Diseases -- Periodicals; Neurology -- Periodicals; 616.8005
• DOI: 10.1002/acn3.51007
• Languages: English
• ISSNs: 2328-9503

Abstract

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.