Evidence map›Paper›PMID 30800556›Full record

ArticleHearing, balance and communication2017

Genetic screening revealed usher syndrome in a paediatric Chinese patient.

Chunyan Qu, Fenghe Liang, Qin Long, Min Zhao, Haiqiong Shang, Lynn Fan, Li Wang, Joseph Foster, Denise Yan, Xuezhong Liu

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Hearing, balance and communication, 2017. 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
0.2field-weighted citation impact, top 34% 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, 3 citations in OpenAlex.

  1. Usher Syndrome.Audiology research · 2022
    Review
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

10 authors at 7 institutions in 2 countries.

Chunyan Qu *China Rehabilitation and Research Center for Deaf Children, Beijing 100029, China.
Fenghe Liang *Department of Otolaryngology-Head and Neck Surgery, Capital Medical University, Beijing Tongren Hospital, Beijing 100730, China.
Qin LongDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
Min ZhaoChina Rehabilitation and Research Center for Deaf Children, Beijing 100029, China.
Haiqiong ShangDepartment of Otolaryngology-Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, China.
Lynn FanBSc, University of Miami, Miami, FL 33136, USA.
Li WangInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou 450003, China.
Joseph FosterDepartment of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA.
Denise YanDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Xuezhong LiuDepartment of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA.
China Rehabilitation Research Center · CNUniversity of Miami · USBeijing Tongren Hospital · CNChinese Academy of Medical Sciences & Peking Union Medical College · CNDr. John T. Macdonald Foundation · USShandong University · CNZhengzhou University · CN

Funding

Molecular Genetics on Non Syndromic Hearing Loss (NSHL)R01DC005575 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2001 to 2024
$10.6M
Sensory disorders in COVID -19 as an early identifier and healthcare worker protectionR01DC012115 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2013 to 2022
$7.2M
Molecular Genetics of autosomal dominant non-syndromic hearing lossR01DC012546 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2012 to 2016
$1.6M
NIDCD NIH HHS R01 DC005575NIDCD NIH HHS R01 DC012115NIDCD NIH HHS R01 DC012546
6 · The paper itself

Abstract

introductionUsher syndrome is the most common cause of hereditary deaf-blindness. Three clinical subtypes have been classified. Usher syndrome type I is the most severe subtype characterized by congenital severe-to-profound hearing loss, retinitis pigmentosa and vestibular dysfunction.

methodsOne family was analyzed and the analysis included the combination of a custom capture/next-generation sequencing panel of 180 known deafness gene, Sanger sequencing and bioinformatics approaches.

resultsCompound heterozygous mutations in the

conclusionsDue to the features of genetic heterogeneity and variation in clinical manifestation, molecular diagnosis and ophthalmological examinations by skilled ophthalmologists with knowledge of Usher syndrome should be suggested as a routine assessment which may improve the accuracy and reliability of etiological diagnosis for hearing loss.

Indexed as

Hearing lossMutationMYO7ARetinitis pigmentosaUsher syndrome

Identifiers

PMID30800556
PMCPMC6383562
OpenAlexW2610378316

What OpenQuestion holds

Textmetadata
LicenceTDM
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.