| 赖明昱,弓毅谷,丁宁,等.PLOD3基因错义变异致结缔组织病 1例[J].安徽医药,2025,29(11):2225-2228. |
| PLOD3基因错义变异致结缔组织病 1例 |
| A case of connective tissue disease resulting from a PLOD3 gene missense variant |
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| DOI：10.3969/j.issn.1009-6469.2025.11.022 |
| 中文关键词: 结缔组织病 常染色体隐性遗传 PLOD3基因 儿童 基因检测 多系统损害 |
| 英文关键词: Connective tissue disease Autosomal recessive inheritance PLOD3 gene Child Genetic testing Multi-system impairments |
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| 中文摘要: |
| 目的分析 1例 PLOD3相关结缔组织病的诊治经过，以进一步提高临床医师对该病的认识。方法运用基因检测方法确诊 2023年 1月兰州大学第一医院收治的 1例 PLOD3相关结缔组织病，并复习总结国内外相关病例。结果病儿男， 58 d，主因“发育畸形 58 d”入院。存在骨骼畸形、眼部异常及听力障碍等多系统损害，应用二代测序对病儿基因组 DNA行全外显子组基因检测，家系 Sanger测序验证。发现病儿 PLOD3基因存在纯合错义变异 c.2117G>A(p.Gly706Asp)，位于染色体 chr7: 101206381。进一步利用预测软件分析，显示预测值为 0.9，为有害变异，根据美国医学遗传学与基因组学学会( ACMG)指南，属于意义未明变异。结合临床，该病儿最终诊断为 PLOD3相关结缔组织病。结论基因检测对明确 PLOD3相关结缔组织病有重要意义，但目前该病报道较少，故提高临床医师对该疾病的认识并给予干预至关重要。 |
| 英文摘要: |
| Objective To analyze the diagnosis and treatment of a case of PLOD3-associated connective tissue disease, in order to further improve clinicians' understanding of the disease.Methods Genetic testing was used to diagnose a case of PLOD3-associated connective tissue disease admitted to The First Hospital of Lanzhou University in January 2023, supplemented by a review of relevantdomestic and international literature. Results The patient was a 58-day-old male infant admitted for "developmental malformations since birth". The infant presented with multi-system impairments including skeletal deformities, ocular abnormalities, and hearing loss. Whole-exome sequencing was performed on the patient's genomic DNA using next-generation sequencing, with Sanger sequencingused for familial verification. A homozygous missense variant c.2117G>A (p.Gly706Asp) in the PLOD3 gene was identified, located atchromosome chr7:101206381. Further analysis with predictive software yielded a score of 0.9, indicating a deleterious variant. Accord-ing to the American College of Medical Genetics and Genomics (ACMG) guidelines, this was classified as a variant of uncertain signifi-cance. Based on the clinical manifestations, the patient was ultimately diagnosed with PLOD3-associated connective tissue disease. Conclusions Genetic testing plays a significant role in in diagnosing this condition. However, due to limited case reports, enhancingclinicians' awareness and providing early intervention are crucial. |
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