Evidence map›Paper›PMID 41359850›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2025

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Zied Riahi, Sophie Boucher, Samia Abdi, Fabienne Wong Jun Tai, Amrit Singh-Estivalet, Asadollah Aghaie, Magali Niasme-Grare, Jean-Pierre Hardelin, Asma Behlouli, Malika Dahmani and 40 more

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Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

50 authors.

Zied RiahiUniversité Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.
Sophie BoucherDepartment of ear, nose, throat, University Hospital Center in Angers, Angers 49933, France.ORCID 0000-0002-7559-0901
Samia AbdiLaboratoire de Recherche Biochimie Génétique, Université des sciences de la santé, Algiers 16000, Algeria.
Fabienne Wong Jun TaiUniversité Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.ORCID 0000-0002-2316-9947
Amrit Singh-EstivaletUniversité Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.ORCID 0000-0001-9932-6438
Asadollah AghaieUniversité Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.
Magali Niasme-GrareUniversité Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.ORCID 0000-0002-0435-8275
Jean-Pierre HardelinBrain Plasticity Unit, CNRS, École Supérieure de Physique et de Chimie Industrielles Paris, Paris Sciences et Lettres Research University, Sorbonne Université, Inserm, CNRS, Neuroscience Paris Seine-Institut de Biologie Paris Seine, Paris F-75005, France.
Asma BehlouliLaboratoire de Recherche Biochimie Génétique, Université des sciences de la santé, Algiers 16000, Algeria.
Malika DahmaniEquipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène, Bab-Ezzouar, Algiers 16000, Algeria.
Sonia TalbiEquipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène, Bab-Ezzouar, Algiers 16000, Algeria.
Yosra BouyacoubUniversité Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.
Rahma MkaouarLaboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.
Cherine CharfeddineLaboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.
Ghita AmalouGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
Amina BakhchaneGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
Amale BousfihaLaboratory of Integrative Biology, Faculty of Sciences Ain Chock, Hassan II University, BP 2693, Maarif, Casablanca 20100, Morocco.ORCID 0000-0003-3834-061X
Sara SalimeGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
Soukaina ElrharchiGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
Malak SalameBiomarker Research Unit for Mauritanian Populations, Nouakchott University, Nouakchott 2022, Mauritania.
Mouna HadramiBiomarker Research Unit for Mauritanian Populations, Nouakchott University, Nouakchott 2022, Mauritania.
Ely BoussatyDivision of Otolaryngology, Department of Surgery, University of California, 9500 Gilman Drive, Mail Code 0666, La Jolla, San Diego, CA 92093.
Hicham CharouteGenomic Sequencing Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
Mustapha DetsouliGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
Khalid SnoussiMohammed VI University of Sciences and Health (UM6SS), BP 82403 Casablanca, Morocco.
Hassan RoubaGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
Hala El HachmiBiomarker Research Unit for Mauritanian Populations, Nouakchott University, Nouakchott 2022, Mauritania.
Fatimetou VetenBiomarker Research Unit for Mauritanian Populations, Nouakchott University, Nouakchott 2022, Mauritania.
Ghlana MeiloudBiomarker Research Unit for Mauritanian Populations, Nouakchott University, Nouakchott 2022, Mauritania.
Jihene MarrakchiLaboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.
Rim ZainineLaboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.
Houda ChahedDepartment of Otorhinolaryngology and Maxilofacial Surgery, La Rabta Hospital in Tunis, Tunis 1007, Tunisia.
Ghazi BesbesDepartment of Otorhinolaryngology and Maxilofacial Surgery, La Rabta Hospital in Tunis, Tunis 1007, Tunisia.
Mediha TrabelsiDepartment of Congenital and Hereditary Diseases, Charles Nicolle Hospital in Tunis, Tunis 1002, Tunisia.
Ridha MradDepartment of Congenital and Hereditary Diseases, Charles Nicolle Hospital in Tunis, Tunis 1002, Tunisia.
Ichraf KraouaChild and Adolescent Neurology Department of Neurology, National Institute of Neurology, Tunis 1007, Tunisia.
Sofiane OuhabOtorhinolaryngology Department, Etablissement Public Hospitalier Bachir Mentouri, Algiers 16000, Algeria.
Djamel DjennaouiOtorhinolaryngology Department, Mustapha Pacha Hospital, Algiers 16000, Algeria.
Farid BoudjenahOtorhinolaryngology Department, Tizi Ouzou University Hospital Center, Algiers 16000, Algeriaa.
Eliane ChoueryDepartment of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, P.O. Box 36 Byblos, Lebanon.ORCID 0000-0002-6257-6609
Mirna MustaphaDepartment of Biomedical Science, University of Sheffield, Sheffield S10 2TN, United Kingdom.ORCID 0000-0001-8998-279X
Ahmed HoumeidaBiomarker Research Unit for Mauritanian Populations, Nouakchott University, Nouakchott 2022, Mauritania.
Abdelhamid BarakatGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
Fatima Ammar KhodjaEquipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène, Bab-Ezzouar, Algiers 16000, Algeria.
Mohamed MakreloufLaboratoire de Recherche Biochimie Génétique, Université des sciences de la santé, Algiers 16000, Algeria.
Akila ZenatiLaboratoire de Recherche Biochimie Génétique, Université des sciences de la santé, Algiers 16000, Algeria.
Najeh BeltaiefDepartment of Otorhinolaryngology and Maxilofacial Surgery, La Rabta Hospital in Tunis, Tunis 1007, Tunisia.
Sonia AbdelhakLaboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.
Christine Petit *Université Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.ORCID 0000-0002-9069-002X
Crystel Bonnet *Université Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.ORCID 0000-0002-1916-9119

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The molecular genetic diagnosis of prelingual sensorineural hearing impairment (HI) is essential for genetic counseling and patient management. Effective diagnosis requires a knowledge of the genetic architecture of HI, which is often lacking. We established a cohort of 450 unrelated patients with familial (at least two affected relatives) severe-to-profound bilateral prelingual HI in five countries with high consanguinity rates: Tunisia, Jordan, Algeria, Morocco, and Mauritania (the TJAMM cohort). Recessive and dominant inheritance were observed in 92% and 8% of cases, respectively; 14% were syndromic. Genome analysis detected 211 different mutations (36% not reported before) in 49 deafness genes, and fully resolved 90% of cases of autosomal recessive isolated deafness (DFNB forms), 89% of the mutations being homozygous. The deafness genes involved were similar in different countries, but their mutations, except a few in

Indexed as

DeafnessHearing Loss, SensorineuralHomozygoteUsher SyndromesCadherin Related ProteinsCadherinsChildCohort StudiesConnexin 26ConnexinsConsanguinityFemaleHumansJordanMaleMutationCadherin Related ProteinsCadherinsCDH23 protein, humanConnexin 26ConnexinsGJB2 protein, humanMYO7A protein, humanMyosinsMyosin VIIahomozygosityhypomorphic mutationsmolecular diagnosisNorth AfricaUSH1B/DFNB mutations

Identifiers

PMID41359850
PMCPMC12718389

What Socratic 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 Socratic graph.