Deleterious fibronectin type III-related gene variants may induce a spinal extradural arachnoid cyst: an exome sequencing study of identical twin cases.

Taijun HanaHideki OgiwaraOhsuke Migita Kazuhiko Nakabayashi Kenichiro HataNobuhito Morota

Published in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2021)

The data suggest that deleterious mutations in fibronectin-related genes may cause SEDACs. In particular, it was suspected that a variant of FN1 may be the cause of the SEDACs in the twin cases studied herein. Detailed studies with a larger number of cases are needed.

Keyphrases

type iii
copy number
spinal cord
single cell
genome wide
electronic health record
gene expression
dna methylation
spinal cord injury