Evidence map›Paper›PMID 40779065›Full record

ArticleEuropean 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 Surgery2025

Novel SLC26A4 variant in Pendred syndrome with non-classical inheritance: a case report.

Huanyu Jiang, Lijuan Zhou, Haidong Zhang, Qingyu Zhang, Shanchun Gong, Siping Liang, Zhenkun Yu

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in 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. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Huanyu JiangSchool of Medicine, Southeast University, 87 Dingjiaqiao, Hunan Road, Nanjing, 210009, Jiangsu, China.
Lijuan ZhouDepartment of Otolaryngology Head and Neck Surgery, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210019, Jiangsu, China.
Haidong ZhangDepartment of Otolaryngology Head and Neck Surgery, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210019, Jiangsu, China.
Qingyu ZhangDepartment of Radiology, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210019, Jiangsu, China.
Shanchun GongDepartment of Otolaryngology Head and Neck Surgery, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210019, Jiangsu, China.
Siping LiangDepartment of Otolaryngology Head and Neck Surgery, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210019, Jiangsu, China.
Zhenkun YuSchool of Medicine, Southeast University, 87 Dingjiaqiao, Hunan Road, Nanjing, 210009, Jiangsu, China. yuzhenkun65@hotmail.com.ORCID http://orcid.org/0000-0001-6528-9122

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo 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.

methodsA 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.

resultsHistology 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.

conclusionsA 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.

Indexed as

Goiter, NodularHearing Loss, SensorineuralSulfate TransportersFemaleHeterozygoteHumansPedigreePhenotypeThyroidectomyYoung AdultSLC26A4 protein, humanSulfate TransportersExons 2‑3 deletionLarge vestibular aqueductPendred syndromeSensorineural hearing lossSLC26A4

Identifiers

PMID40779065

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.