Evidence map›Paper›PMID 31273342›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Meng Li, Lingyun Mei, Chufeng He, Hongsheng Chen, Xinzhang Cai, Yalan Liu, Runyi Tian, Qi Tian, Jian Song, Lu Jiang and 13 more

Open access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.5field-weighted citation impact, top 21% 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

14 citing papers in PubMed, 25 citations in OpenAlex.

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  8. Biomedicines · 2023
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  9. How Cryo-EM Has Expanded Our Understanding of Membrane Transporters.Drug metabolism and disposition: the biological fate of chemicals · 2023
    Review
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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

23 authors at 2 institutions in 2 countries.

Meng LiDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID http://orcid.org/0000-0001-8205-3488
Lingyun MeiDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID http://orcid.org/0000-0003-3034-3322
Chufeng HeDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Hongsheng ChenDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xinzhang CaiDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yalan LiuDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Runyi TianCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Qi TianCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Jian SongDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Lu JiangDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Chang LiuDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID http://orcid.org/0000-0002-1530-0001
Hong WuDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Taoxi LiDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jing LiuDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Ximan LiDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yifang YiDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Denise YanDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, USA.
Susan H BlantonDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, USA.
Zhengmao HuCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Xuezhong LiuDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jiada LiCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Jie LingDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China. lingjie@sklmg.edu.cn.ORCID http://orcid.org/0000-0001-7054-5119
Yong FengDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China. fengyong_hn@hotmail.com.ORCID http://orcid.org/0000-0003-3824-3780
Central South University · CNUniversity of Miami · US

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
NIDCD NIH HHS R01 DC005575NIDCD NIH HHS R01 DC012115
6 · The paper itself

Abstract

purposeTo determine the genetic etiology of deafness in a family (HN-SD01) with autosomal dominant nonsyndromic hearing loss (NSHL).

methodsStepwise genetic analysis was performed on family HN-SD01, including hotspot variant screening, exome sequencing, virtual hearing loss gene panel, and genome-wide linkage analysis. Targeted region sequencing was used to screen ABCC1 in additional cases. Cochlear expression of Abcc1 was evaluated by messenger RNA (mRNA) and protein levels. Computational prediction, immunofluorescence, real-time quantitative polymerase chain reaction, and flow cytometry were conducted to uncover functional consequences of candidate variants.

resultsStepwise genetic analysis identified a heterozygous missense variant, ABCC1:c.1769A>G (p.Asn590Ser), cosegregating with phenotype in HN-SD01. Screening of ABCC1 in an additional 217 cases identified candidate pathogenic variants c.692G>A (p.Gly231Asp) in a sporadic case and c.887A>T (p.Glu296Val) in a familial proband. Abcc1 expressed in stria vascularis and auditory nerve of mouse cochlea. Immunofluorescence showed p.Asn590Ser distributed in cytomembrane and cytoplasm, while wild type was shown only in cytomembrane. Besides, it generated unstable mRNA and decreased efflux capacity of ABCC1.

conclusionStepwise genetic analysis is efficient to analyze the genetic etiology of NSHL. Variants in ABCC1 are linked with NSHL and suggest an important role of extruding pumps in maintaining cochlea function.

Indexed as

AdolescentAdultAgedAnimalsATP-Binding Cassette, Sub-Family C ProteinsChinaCochleaDeafnessExomeExome SequencingFamilyFemaleGenetic LinkageGenetic TestingGenotypeHearing LossATP-Binding Cassette, Sub-Family C Proteinsmultidrug resistance-associated protein 1ABCC1cochleaextrusion pumphearing lossstepwise genetic analysis

Identifiers

PMID31273342
OpenAlexW2955057397

What OpenQuestion holds

Textmetadata
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Registered trials

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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.