Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series

Abstract

Background: Spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord is better known as herniated spinal cord. There are many arguments in favour of considering it a developmental defect. From this point of view, it is a type of neural tube disorder. Neural tube disorders can be caused by multiple factors, including a genetic factor. A common genetic defect in patients with a spinal dysraphism with a hamartomatous growth of the spinal cord is sought for. Case presentation: In two patients with a symptomatic lesion and referred to an academic hospital a genetic analysis was performed after informed consent. Whole-exome analysis was performed. : Whole-exome analysis did not result in identification of a clinically relevant genetic variant.Conclusions: This the first study to investigate the genetic contribution to spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord. We could not establish a genetic cause for this entity. This conclusion cannot be definitive due to the small sample size. However, the incidental occurrence, the lack of reports of inheritance of this disorder and the absence of contribution to syndromal disorders favours a defect of normal development of the spinal cord.

Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication

“…However, study of disease involved tissue may be critical, in addition to use of sensitive methods to resolve low frequency and/or structurally complex variation. Recently, exome sequencing of genomic DNA from two individuals with SD and hamartomatous lesions was not revealing for an underlying genomic event (Bartels et al 2020). Limiting sample size (n=2), and the tissue under study may have been contributory to the inability to establish a genetic association with disease.…”

Adult Spinal Hamartoma Involving Conus Medullaris: Brief Review About Associated Congenital Abnormalities and Surgical Outcome

“…During review of the previously reported literature, only three documented cases were found having no features of such association [1,9,10] . Beside this, there is no genetic predisposition found for this hamartomatous lesion [14] .…”