Evidence map›Paper›PMID 32417962›Full record

ArticleEuropean archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery2020

Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India.

Jayasankaran Chandru, Justin Margret Jeffrey, Amritkumar Pavithra, S Paridhy Vanniya, G Nandhini Devi, Subathra Mahalingam, Natarajan Padmavathy Karthikeyen, C R Srikumari Srisailapathy

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Article in European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 43% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
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  3. Different Rates of theDiagnostics (Basel, Switzerland) · 2021
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  4. Analysis ofAvicenna journal of medical biotechnology
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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

8 authors at 1 institution in 1 country.

Jayasankaran ChandruDepartment of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600 113, India.ORCID https://orcid.org/0000-0003-3194-2650
Justin Margret JeffreyDepartment of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600 113, India.ORCID http://orcid.org/0000-0001-7905-1887
Amritkumar PavithraDepartment of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600 113, India.ORCID http://orcid.org/0000-0002-5913-6397
S Paridhy VanniyaDepartment of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600 113, India.ORCID http://orcid.org/0000-0002-2245-3903
G Nandhini DeviDepartment of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600 113, India.
Subathra MahalingamDepartment of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600 113, India.
Natarajan Padmavathy KarthikeyenHearing Care Center, Anna Nagar, Chennai, 600 040, India.
C R Srikumari SrisailapathyDepartment of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600 113, India. crsrikumari.hhl@gmail.com.ORCID http://orcid.org/0000-0002-1315-5090
University of Madras · IN

Funding

Department of Biotechnology, Government of India BT/PR26850/MED/12/808/2017Indian Council of Medical Research 5/8/10-17(Oto)/CFP/2011-NCD-IUniversity Grants Commission F.8-17(SC)/90(SA-II)
6 · The paper itself

Abstract

purposeAssortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearing-impaired (HI) population. AM is now seen as a universal phenomenon with individuals seeking partners based on quantitative, qualitative, and behavioral phenotypes. However, the molecular genetic dynamics of AM among the HI tested in real time are limited to the DFNB1 locus.

methodsA total of 113 HI partners from 82 South Indian families (52 deaf marrying deaf and 30 deaf marrying normal), previously excluded for DFNB1 (GJB2/6) etiology, were screened for SLC26A4 gene (DFNB4) variants.

resultsA spectrum of seven pathogenic variants viz., p.S90L, p.V239D, p.V359E, p.Gly389Trpfs*79 (novel), p.T410M, p.N457K and p.K715N were identified. The pathogenic allele frequency of SLC26A4 variants identified in this study was 3.98% (9/226).

conclusionWe recommend a preliminary screening of mutational hotspots for future investigations to rapidly test for its recurrence among South Indian HI population. This will be the first study to comprehensively account for the incidence of SLC26A4 gene variants and the real-time dynamics of DFNB4 variants among this type of a HI cohort.

Indexed as

DeafnessVestibular AqueductHumansIndiaMembrane Transport ProteinsSulfate TransportersMembrane Transport ProteinsSLC26A4 protein, humanSulfate TransportersAssortative matingDFNB4Gene dynamicsHearing impairedSLC26A4South India

Identifiers

PMID32417962
OpenAlexW3024134575

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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.