Jiang Huanyu, Zhou Lijuan, Zhang Haidong, Zhang Qingyu, Gong Shanchun, Liang Siping, Yu Zhenkun
School of Medicine, Southeast University, 87 Dingjiaqiao, Hunan Road, Nanjing, 210009, Jiangsu, China.
Department of Otolaryngology Head and Neck Surgery, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210019, Jiangsu, China.
Eur Arch Otorhinolaryngol. 2025 Aug 8. doi: 10.1007/s00405-025-09637-w.
To evaluate the clinical and diagnostic implications of identifying only a single heterozygous SLC26A4 variant in a patient with the full clinical phenotype of Pendred syndrome.
A 20‑year‑old woman with lifelong deaf‑mutism developed progressive retrosternal goitre with dysphagia and dyspnoea. Pure-tone audiometry demonstrated profound bilateral sensorineural hearing loss. CT revealed nodular goitre and bilateral large vestibular aqueducts. She underwent thyroid lobectomy‑isthmectomy. Whole‑exome sequencing and quantitative PCR were performed on blood, excised thyroid tissue and parental samples.
Histology confirmed benign nodular goitre. Genomics detected a heterozygous 57‑kb exons 2-3 deletion in SLC26A4, inherited from an asymptomatic mother; no second pathogenic variant was identified. Family studies confirmed maternal inheritance and absence of the variant in the father. The patient remained euthyroid and symptom‑free six months post‑surgery.
A single heterozygous structural variant can manifest full PDS, underscoring the importance of copy‑number analysis and segregation studies when only one SLC26A4 allele appears affected.
评估在一名具有 Pendred 综合征完整临床表型的患者中仅鉴定出一个杂合 SLC26A4 变体的临床和诊断意义。
一名 20 岁的终身聋哑女性出现进行性胸骨后甲状腺肿并伴有吞咽困难和呼吸困难。纯音听力测定显示双侧严重感音神经性听力损失。CT 显示结节性甲状腺肿和双侧大前庭导水管。她接受了甲状腺叶切除术 - 峡部切除术。对血液、切除的甲状腺组织和父母样本进行了全外显子组测序和定量 PCR。
组织学证实为良性结节性甲状腺肿。基因组学检测到 SLC26A4 中杂合的 57 kb 外显子 2 - 3 缺失，遗传自无症状的母亲；未鉴定出第二个致病变体。家族研究证实了母系遗传且父亲中不存在该变体。患者术后六个月仍甲状腺功能正常且无症状。
单个杂合结构变体可表现出完整的 Pendred 综合征，强调当仅一个 SLC26A4 等位基因似乎受影响时进行拷贝数分析和分离研究的重要性。
