Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in

Xuxu Zhao, Chi Huan, Yan Bai, Yu Lu, Wenyu Xiong, Houyong Kang, Cheng Zhang

Abstract read

In one paragraph

Article in Frontiers in pediatrics, 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

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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

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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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.

Xuxu Zhao *Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Chi Huan *Department of Otolaryngology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing Engineering Research Center of Stem Cell Therapy, Children's Hospital of Chongqing Medical University, Chongqing, China.

Yan BaiDepartment of Otolaryngology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing Engineering Research Center of Stem Cell Therapy, Children's Hospital of Chongqing Medical University, Chongqing, China.

Yu LuWest China Hospital, Sichuan University, Sichuan, China.

Wenyu XiongWest China Hospital, Sichuan University, Sichuan, China.

Houyong KangDepartment of Otorhinolaryngology, Head and Neck Surgery, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Cheng ZhangDepartment of Otolaryngology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing Engineering Research Center of Stem Cell Therapy, Children's Hospital of Chongqing Medical University, Chongqing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: This study aims to analyze a genetic family with the Methods: Detailed medical history collection and physical examinations were conducted for the proband and their family members. Audiological assessments and genetic sequencing analyses were performed on some members. Additionally, a review of existing literature concerning GJB2 c.551G>A (p.R184Q) was conducted. Results: The proband, along with their father and paternal grandmother, carried the heterozygous mutation GJB2 c.551G>A, all exhibiting moderate to profound bilateral prelingual sensorineural deafness. Notably, the proband also presented symptoms of skin dryness and nail abnormalities characteristic of syndromic hearing loss. Conclusion: The GJB2 c.551G>A mutation not only leads to severe hearing loss but may also be associated with syndromic hearing loss, expanding our understanding of the clinical spectrum associated with this variant.

Indexed as

clinical characteristic analysiscongenital deafnessgenotype-phenotype associationGJB2hereditary deafness

Identifiers

PMID40336802

DOI10.3389/fped.2025.1514369

PMCPMC12055802

What Socratic holds

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LicenceCC BY

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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 Socratic graph.