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Journal of Orthopaedic Surgery and Research

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Open Access 01-12-2024 | Lumbar Disc Herniation | Research article

A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation

Authors: Lejian Jiang, Chenhuan Wang, Zhaoming Ye, Qingfeng Hu

Published in: Journal of Orthopaedic Surgery and Research | Issue 1/2024

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.

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Title: A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation
Authors: Lejian Jiang
Chenhuan Wang
Zhaoming Ye
Qingfeng Hu
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Lumbar Disc Herniation
Lumbar Disc Herniation
Published in: Journal of Orthopaedic Surgery and Research / Issue 1/2024
Electronic ISSN: 1749-799X
DOI: https://doi.org/10.1186/s13018-023-04481-2

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A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation

Abstract

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