A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.
J Orthop Surg Res
; 19(1): 19, 2024 Jan 03.
Article
in En
| MEDLINE
| ID: mdl-38166944
ABSTRACT
Trp3 allele in COL9A3 gene has been widely studied in populations with intervertebral disc disease. We identified a novel pathogenic variant in COL9A3 gene in a pedigree with multiple lumbar disc herniation (LDH). The proband was a 14-year-old boy who developed LDH at the L4/5 and L5/S1 spinal segments. His father, paternal aunt and grandfather were diagnosed with LDH at an age of 35, 30 and 23, respectively. By applying whole exome sequencing, a heterozygous missense variant (c.1150C > T, p.Arg384Trp) in COL9A3 was identified. According to the ACMG guidelines, this variant is predicted to be pathogenic. In addition, prediction tools found COL9A3 protein of this variant a reduced stability, some changed charge properties, and an altered spatial conformation. Findings expanded the mutational spectrum of LDH and contributed to the understanding of COL9A3 in the pathogenesis of LDH.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Collagen Type IX
/
Intervertebral Disc Degeneration
/
Intervertebral Disc Displacement
Type of study:
Guideline
/
Prognostic_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
J Orthop Surg Res
Year:
2024
Document type:
Article
Affiliation country:
China