Blepharospasm: A genetic screening study in 132 patients.
Blepharospasm
Genes
REEP4
Sequencing
Variants
Journal
Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
received:
03
01
2019
revised:
28
03
2019
accepted:
01
04
2019
pubmed:
9
4
2019
medline:
22
5
2020
entrez:
9
4
2019
Statut:
ppublish
Résumé
Blepharospasm is a common type of focal dystonia that involves involuntary eyelid spasms and eye closure. In familial cases, an autosomal dominant pattern of inheritance is noted with reduced penetrance. Few genes have been associated with the disease including GNAL and CIZ1. A whole exome sequencing study published lately suggested TOR2A and REEP4 as potential candidate genes. Sanger sequencing of GNAL, CIZ1, TOR2A and REEP4 exons including exon-intron boundaries in 132 patients diagnosed primarily with blepharospasm and/or Meige's syndrome. All variants detected in GNAL, CIZ1 and TOR2A seem to be benign. Sequencing of REEP4 revealed the presence of two nonsynonymous SNVs, one potential splice site variant and one indel all predicted to be damaging by in silico algorithms. Sequencing REEP4 in larger blepharospasm cohorts and functional studies will need to be performed to further elucidate the association between REEP4 and the disease.
Identifiants
pubmed: 30956059
pii: S1353-8020(19)30197-X
doi: 10.1016/j.parkreldis.2019.04.003
pmc: PMC6739171
mid: NIHMS1526706
pii:
doi:
Substances chimiques
Membrane Transport Proteins
0
REEP4 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
315-318Subventions
Organisme : Intramural NIH HHS
ID : Z01 AG000957
Pays : United States
Organisme : Intramural NIH HHS
ID : Z01 AG000957-05
Pays : United States
Informations de copyright
Copyright © 2019 Elsevier Ltd. All rights reserved.
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