REEP4 variant analysis in blepharospasm and other neurological disorders

In preceding work, a deleterious variant [GRCh38/hg38, NC_000008.11:g.22140245G>A, NM_025232.4:c.109C>T, p.Arg37Trp] was found to co-segregate with blepharospasm (BSP) in a large African-American pedigree. Other variants have been reported in genetic screening studies of dystonia. The paralogs...

Full description

Saved in:
Bibliographic Details
Published in:Dystonia 2024-01, Vol.3
Main Authors: Saeirad, Samira, LeDoux, Mark S
Format: Article
Language:English
Subjects:
blepharospasm
dystonia
genetic variant
REEP4
Sanger sequencing
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:In preceding work, a deleterious variant [GRCh38/hg38, NC_000008.11:g.22140245G>A, NM_025232.4:c.109C>T, p.Arg37Trp] was found to co-segregate with blepharospasm (BSP) in a large African-American pedigree. Other variants have been reported in genetic screening studies of dystonia. The paralogs, and are associated with spastic paraplegia. The causal contributions of variants to dystonia and other neurological disorders remains indecisive. Sanger sequencing was used to screen subjects ( = 307) with BSP and BSP-plus dystonia affecting additional anatomical segments (BSP+) phenotypes for variants in tools were used to examine the deleteriousness of reported (ClinVar) and previously published variants. No highly deleterious variant was identified in coding or contiguous splice site regions of in our cohort of 307 subjects. analysis identified numerous deleterious variants in published screening studies of dystonia and several highly deleterious single nucleotide variants in ClinVar. Highly deleterious variants are rare in BSP and BSP+ phenotypes.
ISSN:2813-2106
2813-2106
DOI:10.3389/dyst.2024.12016