Evidence map›Paper›PMID 30599039›Full record

ArticleGene reports2018

Amino acid 118 in the Deafness Causing (DFNA20/26)

Li Wang, Denise Yan, Litao Qin, Tao Li, Hongjian Liu, Wan Li, Rahul Mittal, Feng Yong, Prem Chapagain, Shixiu Liao and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Gene reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. International journal of molecular sciences · 2020
    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

11 authors.

Li Wang *Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Denise Yan *Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, USA.
Litao QinInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Tao LiInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Hongjian LiuDepartment of Otorhinolaryngology, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Wan LiDepartment of Otorhinolaryngology, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Rahul MittalInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Feng YongDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China.
Prem ChapagainDepartment of Physics, Florida International University, Miami, Florida.
Shixiu Liao *Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Xuezhong Liu *Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, USA.

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

backgroundHearing loss is an economically and socially important cause of human morbidity, affecting 360 million people (over 5% of the world's population), of whom 32 million are children. Of the estimated minimum of 50% of hereditary hearing loss, non-syndromic hearing loss (NSHL) accounts for more than 70%. The autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous. To date, 67 ADNSHL loci (DFNA1-67) have been mapped; however, only 35 causative genes have been cloned since 1997 (http://hereditaryhearingloss.org/).

methodsTo identify the genetic basis of hereditary hearing loss in a Chinese family with ADNSHL, we undertook a targeted sequencing of 180 genes using a custom capture panel (MiamiOtoGenes).

resultsThe onset of hearing loss in the family occurred between the ages of 15 and 18 years. Hearing loss was bilateral, started in the high frequency and progressed to lower frequencies. The c.353A>T (K118M) in the

conclusionsThis is the first report of K118M mutation in the

Indexed as

ACTG1DFNA20/26Hearing lossHeterogeneityNext-generation sequencing

Identifiers

PMID30599039
PMCPMC6309262

What OpenQuestion holds

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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 OpenQuestion graph.