Open AccessExpansion of the genetic landscape of ERLIN2 ‐related disorders
Author(s) -
Srivastava Siddharth,
D’Amore Angelica,
Cohen Julie S.,
Swanson Lindsay C.,
Ricca Ivana,
Pini Antonella,
Fatemi Ali,
EbrahimiFakhari Darius,
Santorelli Filippo M.
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51007
Subject(s) - medicine , inheritance (genetic algorithm) , chromosome , genetics , disease , sensorineural hearing loss , hearing loss , audiology , bioinformatics , biology , pathology , gene
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.