Fig. 1
From: A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation
Magnetic resonance (MR) characteristics, pedigree chart and sequencing results of the proband and family members. A MR imaging of the proband: disc herniation at L4/5 and L5/S1 spinal segments. B MR imaging of the proband’s father: disc herniation at L3/4 and L4/5 spinal segments. C Pedigree chart: the proband’s paternal aunt and grandfather were diagnosed with lumbar disc herniation at an age of 30 and 23, respectively. D Summary of exome sequencing of the pedigree: the identified SNV (c.1150C > T, p.Arg384Trp) is located at COL9A3, a gene encoding one of the three alpha chains of type IX collagen. E Sanger sequencing: the heterozygous COL9A3 missense variant (c.1150C > T, p.Arg384Trp) was confirmed