Expansion of the genetic landscape of ERLIN2‐related disorders

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, a...

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Autores principales: Srivastava, Siddharth, D’Amore, Angelica, Cohen, Julie S., Swanson, Lindsay C., Ricca, Ivana, Pini, Antonella, Fatemi, Ali, Ebrahimi‐Fakhari, Darius, Santorelli, Filippo M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187699/
https://www.ncbi.nlm.nih.gov/pubmed/32147972
http://dx.doi.org/10.1002/acn3.51007
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author Srivastava, Siddharth
D’Amore, Angelica
Cohen, Julie S.
Swanson, Lindsay C.
Ricca, Ivana
Pini, Antonella
Fatemi, Ali
Ebrahimi‐Fakhari, Darius
Santorelli, Filippo M.
author_facet Srivastava, Siddharth
D’Amore, Angelica
Cohen, Julie S.
Swanson, Lindsay C.
Ricca, Ivana
Pini, Antonella
Fatemi, Ali
Ebrahimi‐Fakhari, Darius
Santorelli, Filippo M.
author_sort Srivastava, Siddharth
collection PubMed
description 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.
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spelling pubmed-71876992020-04-29 Expansion of the genetic landscape of ERLIN2‐related disorders Srivastava, Siddharth D’Amore, Angelica Cohen, Julie S. Swanson, Lindsay C. Ricca, Ivana Pini, Antonella Fatemi, Ali Ebrahimi‐Fakhari, Darius Santorelli, Filippo M. Ann Clin Transl Neurol Brief Communications 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. John Wiley and Sons Inc. 2020-03-08 /pmc/articles/PMC7187699/ /pubmed/32147972 http://dx.doi.org/10.1002/acn3.51007 Text en © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Srivastava, Siddharth
D’Amore, Angelica
Cohen, Julie S.
Swanson, Lindsay C.
Ricca, Ivana
Pini, Antonella
Fatemi, Ali
Ebrahimi‐Fakhari, Darius
Santorelli, Filippo M.
Expansion of the genetic landscape of ERLIN2‐related disorders
title Expansion of the genetic landscape of ERLIN2‐related disorders
title_full Expansion of the genetic landscape of ERLIN2‐related disorders
title_fullStr Expansion of the genetic landscape of ERLIN2‐related disorders
title_full_unstemmed Expansion of the genetic landscape of ERLIN2‐related disorders
title_short Expansion of the genetic landscape of ERLIN2‐related disorders
title_sort expansion of the genetic landscape of erlin2‐related disorders
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187699/
https://www.ncbi.nlm.nih.gov/pubmed/32147972
http://dx.doi.org/10.1002/acn3.51007
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