{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T21:42:19Z","timestamp":1781127739355,"version":"3.54.1"},"reference-count":67,"publisher":"National Academy of Sciences","issue":"50","license":[{"start":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T00:00:00Z","timestamp":1765152000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2025,12,16]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic toggle=\"yes\">GJB2<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">LRTOMT<\/jats:italic>\n                    , differed considerably, suggesting an overrepresentation of private mutations. Biallelic missense mutations in\n                    <jats:italic toggle=\"yes\">MYO7A<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">CDH23<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">PCDH15<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">USH1C<\/jats:italic>\n                    cause either DFNB forms or Usher syndrome type 1 (USH1) (\n                    <jats:italic toggle=\"yes\">USH1\/DFNB<\/jats:italic>\n                    genes). Such mutations were overrepresented (13% of patients), highlighting the importance of distinguishing between these two mutation classes. We hypothesized that current difficulties might stem from the misclassification of certain mutations. By studying the 65\n                    <jats:italic toggle=\"yes\">USH1\/DFNB<\/jats:italic>\n                    missense mutations reported to cause DFNB in the homozygous state, we identified some that, when associated with a loss-of-function mutation, resulted in USH1, a characteristic pattern of some recessive hypomorphic mutations. This reappraised classification of\n                    <jats:italic toggle=\"yes\">USH1\/DFNB<\/jats:italic>\n                    mutations has the potential to improve molecular diagnosis and patient management significantly.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2518445122","type":"journal-article","created":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T20:03:37Z","timestamp":1765224217000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":1,"title":["Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity"],"prefix":"10.1073","volume":"122","author":[{"given":"Zied","family":"Riahi","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Institut Pasteur, Assistance Publique-H\u00f4pitaux de Paris, INSERM, CNRS, Fondation Pour l\u2019Audition, Institut de l\u2019Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory","place":["Paris, France"]},{"name":"Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar","place":["Tunis, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7559-0901","authenticated-orcid":false,"given":"Sophie","family":"Boucher","sequence":"additional","affiliation":[{"name":"Department of ear, nose, throat, University Hospital Center in Angers","place":["Angers, France"]},{"name":"Univ Angers, MitoVasc, Equipe MitoLab, CNRS UMR6015, INSERM U1083","place":["Angers, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia","family":"Abdi","sequence":"additional","affiliation":[{"name":"Laboratoire de Recherche Biochimie G\u00e9n\u00e9tique, Universit\u00e9 des sciences de la sant\u00e9","place":["Algiers, Algeria"]},{"name":"Central Laboratory of Clinical Biology, Frantz Fanon Hospital, University Hospital Center of Blida","place":["Blida, Algeria"]},{"name":"Faculty of Medicine, University Blida 1","place":["Blida, Algeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2316-9947","authenticated-orcid":false,"given":"Fabienne","family":"Wong Jun Tai","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Institut Pasteur, Assistance Publique-H\u00f4pitaux de Paris, INSERM, CNRS, Fondation Pour l\u2019Audition, Institut de l\u2019Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory","place":["Paris, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9932-6438","authenticated-orcid":false,"given":"Amrit","family":"Singh-Estivalet","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Institut Pasteur, Assistance Publique-H\u00f4pitaux de Paris, INSERM, CNRS, Fondation Pour l\u2019Audition, Institut de l\u2019Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory","place":["Paris, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asadollah","family":"Aghaie","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Institut Pasteur, Assistance Publique-H\u00f4pitaux de Paris, INSERM, CNRS, Fondation Pour l\u2019Audition, Institut de l\u2019Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory","place":["Paris, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0435-8275","authenticated-orcid":false,"given":"Magali","family":"Niasme-Grare","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Institut Pasteur, Assistance Publique-H\u00f4pitaux de Paris, INSERM, CNRS, Fondation Pour l\u2019Audition, Institut de l\u2019Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory","place":["Paris, France"]},{"name":"Service de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital d\u2019Enfants Armand-Trousseau, Assistance Publique-H\u00f4pitaux de Paris","place":["Paris, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Hardelin","sequence":"additional","affiliation":[{"name":"Brain Plasticity Unit, CNRS, \u00c9cole Sup\u00e9rieure de Physique et de Chimie Industrielles Paris, Paris Sciences et Lettres Research University, Sorbonne Universit\u00e9, Inserm, CNRS, Neuroscience Paris Seine-Institut de Biologie Paris Seine","place":["Paris, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Behlouli","sequence":"additional","affiliation":[{"name":"Laboratoire de Recherche Biochimie G\u00e9n\u00e9tique, Universit\u00e9 des sciences de la sant\u00e9","place":["Algiers, Algeria"]},{"name":"Facult\u00e9 des Sciences Biologiques, Universit\u00e9 des Sciences et de la Technologie Houari Boum\u00e9di\u00e8ne","place":["Algiers, Algeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malika","family":"Dahmani","sequence":"additional","affiliation":[{"name":"Equipe de G\u00e9n\u00e9tique, Laboratoire de Biologie Cellulaire et Mol\u00e9culaire, Facult\u00e9 des Sciences Biologiques, Universit\u00e9 des Sciences et de la Technologie Houari Boum\u00e9di\u00e8ne","place":["Bab-Ezzouar, Algeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Talbi","sequence":"additional","affiliation":[{"name":"Equipe de G\u00e9n\u00e9tique, Laboratoire de Biologie Cellulaire et Mol\u00e9culaire, Facult\u00e9 des Sciences Biologiques, Universit\u00e9 des Sciences et de la Technologie Houari Boum\u00e9di\u00e8ne","place":["Bab-Ezzouar, Algeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosra","family":"Bouyacoub","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Institut Pasteur, Assistance Publique-H\u00f4pitaux de Paris, INSERM, CNRS, Fondation Pour l\u2019Audition, Institut de l\u2019Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory","place":["Paris, France"]},{"name":"Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar","place":["Tunis, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahma","family":"Mkaouar","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar","place":["Tunis, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cherine","family":"Charfeddine","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar","place":["Tunis, Tunisia"]},{"name":"Higher Institute of Biotechnology of Sidi-Thabet, University of Manouba","place":["Ariana-Tunis, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghita","family":"Amalou","sequence":"additional","affiliation":[{"name":"Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc","place":["Casablanca, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amina","family":"Bakhchane","sequence":"additional","affiliation":[{"name":"Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc","place":["Casablanca, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3834-061X","authenticated-orcid":false,"given":"Amale","family":"Bousfiha","sequence":"additional","affiliation":[{"name":"Laboratory of Integrative Biology, Faculty of Sciences Ain Chock, Hassan II University, BP 2693, Maarif","place":["Casablanca, Morocco"]},{"name":"Department of Biology, Faculty of Sciences Ben M\u2019Sick, Hassan II University","place":["Casablanca, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Salime","sequence":"additional","affiliation":[{"name":"Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc","place":["Casablanca, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soukaina","family":"Elrharchi","sequence":"additional","affiliation":[{"name":"Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc","place":["Casablanca, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malak","family":"Salame","sequence":"additional","affiliation":[{"name":"Biomarker Research Unit for Mauritanian Populations, Nouakchott University","place":["Nouakchott, Mauritania"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mouna","family":"Hadrami","sequence":"additional","affiliation":[{"name":"Biomarker Research Unit for Mauritanian Populations, Nouakchott University","place":["Nouakchott, Mauritania"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ely","family":"Boussaty","sequence":"additional","affiliation":[{"name":"Division of Otolaryngology, Department of Surgery, University of California, 9500 Gilman Drive, Mail Code 0666, La Jolla","place":["San Diego"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hicham","family":"Charoute","sequence":"additional","affiliation":[{"name":"Genomic Sequencing Laboratory, Institut Pasteur du Maroc","place":["Casablanca, Morocco"]},{"name":"Epidemiology Research Unit, Biostatistics and Bioinformatics, Institut Pasteur du Maroc","place":["Casablanca, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustapha","family":"Detsouli","sequence":"additional","affiliation":[{"name":"Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc","place":["Casablanca, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Snoussi","sequence":"additional","affiliation":[{"name":"Mohammed VI University of Sciences and Health (UM6SS)","place":["Casablanca, Morocco"]},{"name":"Mohammed VI Audition Center, Cheikh Khalifa International University Hospital","place":["Casablanca, Morocco"]},{"name":"Mohammed VI University Hospital","place":["Bouskoura, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Rouba","sequence":"additional","affiliation":[{"name":"Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc","place":["Casablanca, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hala El","family":"Hachmi","sequence":"additional","affiliation":[{"name":"Biomarker Research Unit for Mauritanian Populations, Nouakchott University","place":["Nouakchott, Mauritania"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatimetou","family":"Veten","sequence":"additional","affiliation":[{"name":"Biomarker Research Unit for Mauritanian Populations, Nouakchott University","place":["Nouakchott, Mauritania"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghlana","family":"Meiloud","sequence":"additional","affiliation":[{"name":"Biomarker Research Unit for Mauritanian Populations, Nouakchott University","place":["Nouakchott, Mauritania"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jihene","family":"Marrakchi","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar","place":["Tunis, Tunisia"]},{"name":"Department of Otorhinolaryngology, District Hospital of Menzel Bourguiba","place":["Bizerte, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rim","family":"Zainine","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar","place":["Tunis, Tunisia"]},{"name":"Department of Otorhinolaryngology and Maxilofacial Surgery, La Rabta Hospital in Tunis","place":["Tunis, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houda","family":"Chahed","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Maxilofacial Surgery, La Rabta Hospital in Tunis","place":["Tunis, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghazi","family":"Besbes","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Maxilofacial Surgery, La Rabta Hospital in Tunis","place":["Tunis, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mediha","family":"Trabelsi","sequence":"additional","affiliation":[{"name":"Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital in Tunis","place":["Tunis, Tunisia"]},{"name":"LR99ES10 Laboratory of Human Genetics, Faculty of Medicine in Tunis, University of Tunis El Manar","place":["Tunis, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ridha","family":"Mrad","sequence":"additional","affiliation":[{"name":"Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital in Tunis","place":["Tunis, Tunisia"]},{"name":"LR99ES10 Laboratory of Human Genetics, Faculty of Medicine in Tunis, University of Tunis El Manar","place":["Tunis, Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichraf","family":"Kraoua","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology Department of Neurology, National Institute of Neurology","place":["Tunis, Tunisia"]},{"name":"LR18SP04 Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology in Tunis. 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