Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.

Silke PeetersArne DecramerStuart Alan CainPeter HouptFrederik VerstrekenJan NoyezChristophe HermansWerner JacobsMartin LammensErik FransenAjay Anand KumarGeert VandeweyerBart LoeysWim Van HulClair BaldockEveline BoudinGeert Mortier

Published in: Journal of medical genetics (2020)

The identification of a novel FBN2 variant (p.Phe1670Cys) in a unique family with early onset CTS, together with the observed increased frequency of rare and high-impact FBN2 variants in patients with sporadic CTS, strongly suggest a role of FBN2 in the pathogenesis of CTS.

Keyphrases

early onset
late onset
copy number
gene expression
dna methylation
amyotrophic lateral sclerosis
genome wide