Evidence map›Paper›PMID 37924449›Full record

ArticleMolecular biology reports2023

Novel pathogenic WHRN variant causing hearing loss in a moroccan family.

Imane AitRaise, Ghita Amalou, Salaheddine Redouane, Hicham Charoute, Khalid Snoussi, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Abdelhamid Barakat

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Article in Molecular biology reports, 2023. 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
0.4field-weighted citation impact, top 40% 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. 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

9 authors at 5 institutions in 2 countries.

Imane AitRaise *Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco.
Ghita Amalou *Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco.
Salaheddine RedouaneGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco.
Hicham CharouteResearch unit of epidemiology, biostatistics and bioinformatics, Institut Pasteur du Maroc, Casablanca, Morocco.
Khalid SnoussiAudition center, Cheikh Khalifa International University Hospital, Casablanca, Morocco.
Houria AbdelghaffarLaboratory of Biochemistry, Environment and Agri-food, Faculty of Science and Techniques of Mohammedia, Hassan II University of Casablanca, Casablanca, Morocco.
Crystel BonnetInstitut Pasteur, Université Paris Cité, Inserm, Institut de l'Audition, Paris, F-75012, France.
Christine PetitInstitut Pasteur, Université Paris Cité, Inserm, Institut de l'Audition, Paris, F-75012, France.
Abdelhamid BarakatGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco. hamid.barakat@pasteur.ma.
Institut Pasteur du Maroc · MACollège de France · FRHôpital Universitaire International Cheikh Khalifa · MAUniversité d'Angers · FRUniversity of Hassan II Casablanca · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesThe most prevalent sensory disease in humans is deafness. A variety of genes have been linked to hearing loss, which can either be isolated (non-syndromic) or associated with lesions in other organs (syndromic). It has been discovered that WHRN variants are responsible for non-syndromic hearing loss and Usher syndrome type II. METHODS AND

resultsExome sequencing in a consanguineous Moroccan patient with severe hearing loss identified a single homozygous mutation c.619G > T; p.Ala207Ser in WHRN, encoding a cytoskeletal scaffold protein that binds membrane protein complexes to the cytoskeleton in ocular photoreceptors and ear hair cell stereocilia. Bioinformatics methods and molecular dynamic modeling were able to predict the pathogenic implications of this variation.

conclusionWe used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.

Indexed as

Usher SyndromesCytoskeletonExome SequencingHumansMembrane ProteinsModels, MolecularMutationPedigreeMembrane ProteinsWHRN protein, humanAutosomal recessive hearing lossMoroccoUsher syndromeWHRN

Identifiers

PMID37924449
OpenAlexW4388341719

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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.