中华耳科学杂志2026，Vol.24Issue(5)：401-405,5.DOI:10.3969/j.issn.1672-2922.2026.05.004
COL3A1基因突变致血管型Ehlers-Danlos综合征的听力损失新表型分析
A novel phenotype of vascular Ehlers-Danlos syndrome-related hearing loss caused by COL3A1 gene mutation
摘要
Abstract
Objective To report a novel hearing loss phenotype in a patient with vascular Ehlers-Danlos syndrome(v EDS,OMIM#130050)and to investigate the dynamic localization and expression of COL3A1 protein in the mouse cochlea.Methods We collected clinical data from a sporadic family case of vEDS with hearing loss to identify genetic etiology using whole-exome sequencing technology.Immunofluorescence staining was employed to examine the temporal localization of COL3A1 protein in the vascular stria of mouse cochlear tissue.Furthermore,we explored the expression patterns of COL3A1 in specific cells of the vascular stria using single-cell sequencing databases.Results The proband exhibited superficial skin bruising,short stature,mandibular hypoplasia,and thumb contractures,along with a mixed hearing loss phenotype.Genetic analysis revealed a de novo pathogenic mutation in the COL3A1 gene(c.3775G>A).Immunofluorescence results showed weak COL3A1 protein expression in the stria vascularis in 7-day-old mice,significant expression in 1-month-old mice,and a gradual decline in 6-and 12-month-old mice.Single-cell sequencing indicated that COL3A1 was specifically expressed in perivascular macrophage-like melanocytes in the stria vascularis,with expression levels decreasing with age.Conclusions This study enriches the understanding of the novel hearing loss phenotype associated with COL3A1 mutations in vEDS.The temporal and spatial expression of COL3A1 in the stria vascularis of the mouse cochlea provides experimental evidence supporting further exploration into the mechanisms underlying COL3A1-related hearing loss.关键词
血管型埃勒斯-当洛斯综合征/COL3A1/听力损失/单细胞测序/血管纹Key words
vascular Ehlers-Danlos syndrome/COL3A1/hearing loss/single cell sequencing/vascular stria引用本文复制引用
王璐,陈岸海,徐震航,吴学文..COL3A1基因突变致血管型Ehlers-Danlos综合征的听力损失新表型分析[J].中华耳科学杂志,2026,24(5):401-405,5.基金项目
国家自然科学基金项目(82371169) （82371169）
湖南省自然科学基金项目(2021JJ31108) （2021JJ31108）
