European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025
Novel SLC26A4 variant in Pendred syndrome with non-classical inheritance: a case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Jiang Huanyu, Zhou Lijuan, Zhang Haidong, Zhang Qingyu, Gong Shanchun, Liang Siping, Yu Zhenkun
Аннотация
PURPOSE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.