Evidence map›Paper›PMID 31852093›Full record

ArticleMedicine2019

Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family.

Xinqiang Lan, Shiyu Sun, Xin Lan, Linyuan Niu, Chunxiao Zhang, Xiaoli Chen, Ningning Xia

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 51% of its field
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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Unusual phenotype in 35delG mutation: a case report.Journal of medical case reports · 2024
    Article
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 at 2 institutions in 1 country.

Xinqiang LanDepartment of Medical Genetics, Weihai Maternity and Child Care Hospital.
Shiyu SunDepartment of Medical Genetics, Weihai Maternity and Child Care Hospital.
Xin LanMedical College, Nanchang University, Nanchang, Jiangxi Province, China.
Linyuan NiuDepartment of Medical Genetics, Weihai Maternity and Child Care Hospital.
Chunxiao ZhangDepartment of Medical Genetics, Weihai Maternity and Child Care Hospital.
Xiaoli ChenDepartment of Medical Genetics, Weihai Maternity and Child Care Hospital.
Ningning XiaDepartment of Medical Genetics, Weihai Maternity and Child Care Hospital.
Qingdao University · CNWeihai Maternal and Child Health Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

rationaleMolecular mechanism underlying the autosomal recessive non-syndromic hearing loss (ARNSHL) is still plausible. Pathogenic mutations of the gap junction beta 2 protein (GJB2) are reported to be the primary causes of ARNSHL. PATIENT CONCERNS: A propositus was diagnosed as ARNSHL with bilateral congenital profound hearing loss. DIAGNOSIS: With microarray and target gene sequencing testing methods, a novel GJB2 mutant was found to be associated with ARNSHL in this Han Chinese family. INTERVENTIONS/OUTCOMES: Based on the finding in this research, prenatal screening of GJB2 mutation and genetic counseling are recommended to this family for their next pregnancy. Our interventions allow the family to plan informatively. LESSONS: In this family, we discovered 2 heterozygous carriers of c.113T>C variation in the GJB2 gene. The propositus, who had profound hearing loss, had inherited the c.113T>C variation from his normal mother and the c.235delC from his father.

Indexed as

EthnicityMutationAdultChinaConnexin 26ConnexinsDeafnessDNADNA Mutational AnalysisFemaleHumansInfantMaleOtoacoustic Emissions, SpontaneousPedigreePrevalenceConnexin 26ConnexinsDNAGJB2 protein, human

Identifiers

PMID31852093
PMCPMC6922571
OpenAlexW2996636970

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.