Expansion of the genetic landscape of ERLIN2-related disorders: Annals of Clinical and Translational Neurology

S. Srivastava; A. D’Amore; J.S. Cohen; L.C. Swanson; I. Ricca; A. Pini; A. Fatemi; D. Ebrahimi-Fakhari; F.M. Santorelli

doi:10.1002/acn3.51007

Expansion of the genetic landscape of ERLIN2-related disorders: Annals of Clinical and Translational Neurology

S. Srivastava, A. D’Amore, J.S. Cohen, L.C. Swanson, I. Ricca, A. Pini, A. Fatemi, D. Ebrahimi-Fakhari, F.M. Santorelli

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

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. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

Original language	English
Pages (from-to)	573-578
Number of pages	6
Journal	Ann. Clin. Transl. Neurol.
Volume	7
Issue number	4
DOIs	https://doi.org/10.1002/acn3.51007
Publication status	Published - 2020

Keywords

er lipid raft associated 2
protein
unclassified drug
arachnoid cyst
Article
autosomal dominant disorder
case report
cerebral palsy
child
clinical article
cognition
dysarthria
dysmetria
dystonia
epilepsy
female
frameshift mutation
genetic analysis
human
lipid raft
male
mental deterioration
motor neuron disease
perception deafness
priority journal
school child
seizure
uniparental disomy
whole exome sequencing

Access to Document

10.1002/acn3.51007

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85081252151&doi=10.1002%2facn3.51007&partnerID=40&md5=3f1ed7fb0cc019718578c090ead1a4fa

Fingerprint Dive into the research topics of 'Expansion of the genetic landscape of ERLIN2-related disorders: Annals of Clinical and Translational Neurology'. Together they form a unique fingerprint.

Cite this

Expansion of the genetic landscape of ERLIN2-related disorders : Annals of Clinical and Translational Neurology. / Srivastava, S.; D’Amore, A.; Cohen, J.S.; Swanson, L.C.; Ricca, I.; Pini, A.; Fatemi, A.; Ebrahimi-Fakhari, D.; Santorelli, F.M.

In: Ann. Clin. Transl. Neurol., Vol. 7, No. 4, 2020, p. 573-578.

Research output: Contribution to journal › Article › peer-review

@article{0c0ede39b474400fa6d23e938e0d8dc4,

title = "Expansion of the genetic landscape of ERLIN2-related disorders: Annals of Clinical and Translational Neurology",

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. {\textcopyright} 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.",

keywords = "er lipid raft associated 2, protein, unclassified drug, arachnoid cyst, Article, autosomal dominant disorder, case report, cerebral palsy, child, clinical article, cognition, dysarthria, dysmetria, dystonia, epilepsy, female, frameshift mutation, genetic analysis, human, lipid raft, male, mental deterioration, motor neuron disease, perception deafness, priority journal, school child, seizure, uniparental disomy, whole exome sequencing",

author = "S. Srivastava and A. D{\textquoteright}Amore and J.S. Cohen and L.C. Swanson and I. Ricca and A. Pini and A. Fatemi and D. Ebrahimi-Fakhari and F.M. Santorelli",

note = "Cited By :1 Export Date: 19 March 2021 Correspondence Address: Santorelli, F.M.; Molecular Medicine, Italy; email: filippo3364@gmail.com",

year = "2020",

doi = "10.1002/acn3.51007",

language = "English",

volume = "7",

pages = "573--578",

journal = "Ann. Clin. Transl. Neurol.",

issn = "2328-9503",

publisher = "Wiley-Blackwell",

number = "4",

}

TY - JOUR

T1 - Expansion of the genetic landscape of ERLIN2-related disorders

T2 - Annals of Clinical and Translational Neurology

AU - Srivastava, S.

AU - D’Amore, A.

AU - Cohen, J.S.

AU - Swanson, L.C.

AU - Ricca, I.

AU - Pini, A.

AU - Fatemi, A.

AU - Ebrahimi-Fakhari, D.

AU - Santorelli, F.M.

N1 - Cited By :1 Export Date: 19 March 2021 Correspondence Address: Santorelli, F.M.; Molecular Medicine, Italy; email: filippo3364@gmail.com

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - er lipid raft associated 2

KW - protein

KW - unclassified drug

KW - arachnoid cyst

KW - Article

KW - autosomal dominant disorder

KW - case report

KW - cerebral palsy

KW - child

KW - clinical article

KW - cognition

KW - dysarthria

KW - dysmetria

KW - dystonia

KW - epilepsy

KW - female

KW - frameshift mutation

KW - genetic analysis

KW - human

KW - lipid raft

KW - male

KW - mental deterioration

KW - motor neuron disease

KW - perception deafness

KW - priority journal

KW - school child

KW - seizure

KW - uniparental disomy

KW - whole exome sequencing

U2 - 10.1002/acn3.51007

DO - 10.1002/acn3.51007

M3 - Article

VL - 7

SP - 573

EP - 578

JO - Ann. Clin. Transl. Neurol.

JF - Ann. Clin. Transl. Neurol.

SN - 2328-9503

IS - 4

ER -