{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T04:22:34Z","timestamp":1767759754621,"version":"3.48.0"},"reference-count":51,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Ministry of Europe and Foreign Affairs, the Ministry of Higher Education, Research and Innovation, and the French Institute of Rabat and the French-Morocco bilateral program PHC TOUBKAL","award":["39005ZL"],"award-info":[{"award-number":["39005ZL"]}]},{"name":"Pasteur Institute of Morocco (IPM), Pasteur Network as part of the Inter-Pasteurian Concerted Actions program"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum. Genet."],"published-print":{"date-parts":[[2026,12]]},"DOI":"10.1007\/s00439-025-02814-1","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T04:14:16Z","timestamp":1767759256000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic diversity of Usher syndrome in Moroccan patients"],"prefix":"10.1007","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9652-8570","authenticated-orcid":false,"given":"Kenza","family":"El Khair","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amale","family":"Bousfiha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aymane","family":"Bouzidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghita","family":"Amalou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majida","family":"Charif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hicham","family":"Charoute","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adil","family":"El Hamouchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina","family":"Bakhchane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Snoussi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amal","family":"Hajjij","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustapha","family":"Detsouli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"Benrahma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Crystel","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Lenaers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Petit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelhamid","family":"Barakat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"issue":"9","key":"2814_CR1","doi-asserted-by":"publisher","first-page":"e0161893","DOI":"10.1371\/journal.pone.0161893","volume":"11","author":"S Abdi","year":"2016","unstructured":"Abdi S, Bahloul A, Behlouli A, Hardelin J-P, Makrelouf M, Boudjelida K, Louha M et al (2016) Diversity of the genes implicated in Algerian patients affected by Usher syndrome. PLoS ONE 11(9):e0161893. https:\/\/doi.org\/10.1371\/journal.pone.0161893","journal-title":"PLoS ONE"},{"issue":"33","key":"2814_CR2","doi-asserted-by":"publisher","first-page":"20070","DOI":"10.1073\/pnas.2009628117","volume":"117","author":"A Abu Rayyan","year":"2020","unstructured":"Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C et al. (2020) Genomic analysis of inherited hearing loss in the Palestinian population. Proc Natl Acad Sci 117 (33): 20070\u201376 https:\/\/doi.org\/10.1073\/pnas.2009628117","journal-title":"Proc Natl Acad Sci"},{"issue":"12","key":"2814_CR3","doi-asserted-by":"publisher","first-page":"10663","DOI":"10.1007\/s11033-023-08901-8","volume":"50","author":"I AitRaise","year":"2023","unstructured":"AitRaise I, Amalou G, Redouane S, Charoute H, Snoussi K, Abdelghaffar H, Bonnet C, Petit C, Barakat A (2023) Novel pathogenic WHRN variant causing hearing loss in a Moroccan family. Mol Biol Rep 50(12):10663\u201310669. https:\/\/doi.org\/10.1007\/s11033-023-08901-8","journal-title":"Mol Biol Rep"},{"issue":"11","key":"2814_CR4","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0142154","volume":"10","author":"T Atik","year":"2015","unstructured":"Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F (2015) Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss. PLOS ONE 10 (11): e0142154 https:\/\/doi.org\/10.1371\/journal.pone.0142154","journal-title":"PLOS ONE"},{"issue":"10","key":"2814_CR5","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1002\/humu.22608","volume":"35","author":"D Baux","year":"2014","unstructured":"Baux D, Blanchet C, Hamel C, Meunier I, Larrieu L, Faug\u00e8re Val\u00e9rie, Christel Vach\u00e9, et al (2014) Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Hum Mutat 35(10):1179\u20131186. https:\/\/doi.org\/10.1002\/humu.22608","journal-title":"Hum Mutat"},{"issue":"12","key":"2814_CR6","doi-asserted-by":"publisher","first-page":"e23544","DOI":"10.1002\/jcla.23544","volume":"34","author":"F Bitarafan","year":"2020","unstructured":"Bitarafan F, Seyedena SY, Mahmoudi M, and Masoud Garshasbi (2020) Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by Next-generation sequencing. J Clin Lab Anal 34(12):e23544. https:\/\/doi.org\/10.1002\/jcla.23544","journal-title":"J Clin Lab Anal"},{"issue":"1","key":"2814_CR7","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/1750-1172-6-21","volume":"6","author":"C Bonnet","year":"2011","unstructured":"Bonnet C, Grati M\u2019hamed, Marlin S, Levilliers J, Hardelin J-P, Parodi M, Niasme-Grare M et al (2011) Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis 6(1):21. https:\/\/doi.org\/10.1186\/1750-1172-6-21","journal-title":"Orphanet J Rare Dis"},{"issue":"12","key":"2814_CR8","doi-asserted-by":"publisher","first-page":"1730","DOI":"10.1038\/ejhg.2016.99","volume":"24","author":"C Bonnet","year":"2016","unstructured":"Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M\u00e9lanie, Marcaillou C, Ga\u00eblle M, Lef\u00e8vre et al (2016) An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. Eur J Hum Genet 24(12):1730\u20131738. https:\/\/doi.org\/10.1038\/ejhg.2016.99","journal-title":"Eur J Hum Genet"},{"issue":"October","key":"2814_CR9","first-page":"1862","volume":"13","author":"R Boulouiz","year":"2007","unstructured":"Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Wollnik B, and Abdelhamid Barakat (2007) Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel Loss-of-Function mutation and Non-Pathogenicity of p.Y1719C. Mol Vis 13(October):1862\u20131865","journal-title":"Mol Vis"},{"issue":"5","key":"2814_CR10","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1007\/s11033-017-4129-9","volume":"44","author":"A Bousfiha","year":"2017","unstructured":"Bousfiha A, Bakhchane A, Charoute H, Detsouli M, Rouba H, Charif M, Lenaers G, and Abdelhamid Barakat (2017) Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. Mol Biol Rep 44(5):429\u2013434. https:\/\/doi.org\/10.1007\/s11033-017-4129-9","journal-title":"Mol Biol Rep"},{"issue":"1","key":"2814_CR11","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1186\/s13023-022-02340-7","volume":"17","author":"A Bouzidi","year":"2022","unstructured":"Bouzidi A, Charoute H, Charif M, Amalou G, Kandil M, Barakat A, and Guy Lenaers (2022) Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies. Orphanet J Rare Dis 17(1):197. https:\/\/doi.org\/10.1186\/s13023-022-02340-7","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"2814_CR12","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1136\/jmg.2006.044784","volume":"44","author":"FPM Cremers","year":"2006","unstructured":"Cremers FPM, Kimberling WJ, Kulm M, De Brouwer AP, Van Wijk E, Te Brinke H, Cremers CWRJ et al (2006) Development of a genotyping microarray for Usher syndrome. J Med Genet 44(2):153\u2013160. https:\/\/doi.org\/10.1136\/jmg.2006.044784","journal-title":"J Med Genet"},{"key":"2814_CR13","doi-asserted-by":"publisher","unstructured":"Cuevas Jos\u00e9M, Espin\u00f3s C, Mill\u00e1n JM, Ana S\u00e1nchez-De, La Morena MJ, Trujillo C, Ayuso M, Beneyto, N\u00e1jera C (1999) Identification of Three Novel Mutations in the MYO7A Gene. Hum Mut 14(2):181. https:\/\/doi.org\/10.1002\/(SICI)1098-1004(1999)14:2%3C181::AID-HUMU11%3E3.0.CO;2-3","DOI":"10.1002\/(SICI)1098-1004(1999)14:2%3C181::AID-HUMU11%3E3.0.CO;2-3"},{"issue":"3\u20134","key":"2814_CR14","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1007\/s00439-022-02448-7","volume":"141","author":"S Delmaghani","year":"2022","unstructured":"Delmaghani S, and Aziz El-Amraoui (2022) The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification. Hum Genet 141(3\u20134):709\u2013735. https:\/\/doi.org\/10.1007\/s00439-022-02448-7","journal-title":"Hum Genet"},{"issue":"3","key":"2814_CR15","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1002\/humu.9524","volume":"29","author":"B Dreyer","year":"2008","unstructured":"Dreyer B, Brox V, Tranebj\u00e6rg L, Rosenberg T, Sadeghi Andr\u00e8M, M\u00f6ller C, and \u00d8ivind Nilssen (2008) Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat 29(3):451. https:\/\/doi.org\/10.1002\/humu.9524","journal-title":"Hum Mutat"},{"issue":"6","key":"2814_CR16","doi-asserted-by":"publisher","first-page":"1812","DOI":"10.1172\/JCI39715","volume":"120","author":"I Ebermann","year":"2010","unstructured":"Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Sch\u00e4fer E et al (2010) PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest 120(6):1812\u20131823. https:\/\/doi.org\/10.1172\/JCI39715","journal-title":"J Clin Invest"},{"issue":"13","key":"2814_CR17","doi-asserted-by":"publisher","first-page":"6723","DOI":"10.3390\/ijms22136723","volume":"22","author":"C Fuster-Garc\u00eda","year":"2021","unstructured":"Fuster-Garc\u00eda C, Garc\u00eda-Boh\u00f3rquez Bel\u00e9n, Rodr\u00edguez-Mu\u00f1oz A, Aller E, Jaijo T, Mill\u00e1n Jos\u00e9M, Gema G-G (2021) Usher syndrome: genetics of a human ciliopathy. Int J Mol Sci 22(13):6723. https:\/\/doi.org\/10.3390\/ijms22136723","journal-title":"Int J Mol Sci"},{"issue":"1","key":"2814_CR18","doi-asserted-by":"publisher","first-page":"17113","DOI":"10.1038\/s41598-018-35085-0","volume":"8","author":"C Fuster-Garc\u00eda","year":"2018","unstructured":"Fuster-Garc\u00eda C, Garc\u00eda-Garc\u00eda G, Jaijo T, Forn\u00e9s N, Ayuso C, Fern\u00e1ndez-Burriel M, S\u00e1nchez-De la Morena A, Aller E, Mill\u00e1n JM (2018) High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. Sci Rep 8(1):17113 https:\/\/doi.org\/10.1038\/s41598-018-35085-0","journal-title":"Sci Rep"},{"issue":"7","key":"2814_CR19","doi-asserted-by":"publisher","first-page":"1232","DOI":"10.1002\/humu.24024","volume":"41","author":"D Galatolo","year":"2020","unstructured":"Galatolo D, Kuo ME, Mullen P, Meyer-Schuman R, Doccini S, Battini R, Lieto M et al (2020) Bi\u2010allelic mutations in HARS1 severely impair histidyl\u2010tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. Hum Mutat 41(7):1232\u20131237. https:\/\/doi.org\/10.1002\/humu.24024","journal-title":"Hum Mutat"},{"issue":"January","key":"2814_CR20","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/j.ajo.2020.08.004","volume":"221","author":"M Georgiou","year":"2021","unstructured":"Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, and Michel Michaelides (2021) Sector retinitis pigmentosa: extending the molecular genetics basis and elucidating the natural history. Am J Ophthalmol 221(January):299\u2013310. https:\/\/doi.org\/10.1016\/j.ajo.2020.08.004","journal-title":"Am J Ophthalmol"},{"issue":"4","key":"2814_CR21","doi-asserted-by":"publisher","first-page":"1886","DOI":"10.1167\/iovs.08-3122","volume":"50","author":"SG Jacobson","year":"2009","unstructured":"Jacobson SG, Tomas S, Aleman A, Sumaroka AV, Cideciyan, Alejandro J, Roman EAM, Windsor SB, Schwartz HL, Rehm, and William J. Kimberling (2009) Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Invest Opthalmology Visual Sci 50(4):1886\u20131894. https:\/\/doi.org\/10.1167\/iovs.08-3122","journal-title":"Invest Opthalmology Visual Sci"},{"issue":"11","key":"2814_CR22","doi-asserted-by":"publisher","first-page":"7924","DOI":"10.1167\/iovs.11-8313","volume":"52","author":"SG Jacobson","year":"2011","unstructured":"Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Alejandro J, Roman TS, Aleman SB, Schwartz et al (2011) Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Invest Opthalmology Visual Sci 52(11):7924\u20137936. https:\/\/doi.org\/10.1167\/iovs.11-8313","journal-title":"Invest Opthalmology Visual Sci"},{"issue":"3","key":"2814_CR23","doi-asserted-by":"publisher","first-page":"e71","DOI":"10.1136\/jmg.2006.045377","volume":"44","author":"T Jaijo","year":"2006","unstructured":"Jaijo T, Aller E, Beneyto M, Najera C, Graziano C, Turchetti D, Seri M et al (2006) MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet 44(3):e71. https:\/\/doi.org\/10.1136\/jmg.2006.045377","journal-title":"J Med Genet"},{"issue":"3","key":"2814_CR24","doi-asserted-by":"publisher","first-page":"1311","DOI":"10.1167\/iovs.09-4085","volume":"51","author":"T Jaijo","year":"2010","unstructured":"Jaijo T, Aller E, Garc\u00eda-Garc\u00eda G, Aparisi Mar\u00edaJ, Bernal S, \u00c1vila-Fern\u00e1ndez A, Barrag\u00e1n I et al (2010) Microarray-Based mutation analysis of 183 Spanish families with Usher syndrome. Invest Opthalmology Visual Sci 51(3):1311\u20131317. https:\/\/doi.org\/10.1167\/iovs.09-4085","journal-title":"Invest Opthalmology Visual Sci"},{"issue":"2","key":"2814_CR25","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U","volume":"13","author":"AR Janecke","year":"1999","unstructured":"Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, and Andreas Gal (1999) Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. Hum Mutat 13(2):133\u2013140. https:\/\/doi.org\/10.1002\/(SICI)1098-1004(1999)13:2%3C133::AID-HUMU5%3E3.0.CO;2-U","journal-title":"Hum Mutat"},{"issue":"1","key":"2814_CR26","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1097\/MAO.0000000000002054","volume":"40","author":"G Jouret","year":"2019","unstructured":"Jouret G, Poirsier C\u00e9line, Spodenkiewicz M, Jaquin Cl\u00e9mence, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, and Anne-Sophie Lebre (2019) Genetics of Usher syndrome: new insights from a Meta-Analysis. Otology Neurotology 40(1):121\u2013129. https:\/\/doi.org\/10.1097\/MAO.0000000000002054","journal-title":"Otology Neurotology"},{"issue":"2","key":"2814_CR27","doi-asserted-by":"publisher","first-page":"1095","DOI":"10.1167\/iovs.17-22817","volume":"59","author":"A Khalaileh","year":"2018","unstructured":"Khalaileh A, Abu-Diab A, Ben-Yosef T, Raas-Rothschild A, Lerer I, Alswaiti Y, Chowers I, Banin E, Sharon D, and Samer Khateb (2018) The genetics of Usher syndrome in the Israeli and Palestinian populations. Invest Opthalmology Visual Sci 59(2):1095\u20131104. https:\/\/doi.org\/10.1167\/iovs.17-22817","journal-title":"Invest Opthalmology Visual Sci"},{"issue":"1","key":"2814_CR28","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1111\/cge.12798","volume":"91","author":"KN Khan","year":"2017","unstructured":"Khan KN, Chana R, Ali N, Wright G, Webster AR, Moore AT, Michaelides M (2017) Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National health service. Clin Genet 91(1):38\u201345. https:\/\/doi.org\/10.1111\/cge.12798","journal-title":"Clin Genet"},{"issue":"8","key":"2814_CR29","doi-asserted-by":"publisher","first-page":"1603","DOI":"10.1097\/IAE.0000000000002636","volume":"40","author":"S Khateb","year":"2020","unstructured":"Khateb S, Mohand-Sa\u00efd S, Nassisi M, Bonnet C, Roux A-F, Andrieu C, Antonio A et al (2020) PHENOTYPIC CHARACTERISTICS OF ROD\u2013CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. Retina 40(8):1603\u20131615. https:\/\/doi.org\/10.1097\/IAE.0000000000002636","journal-title":"Retina"},{"issue":"S261","key":"2814_CR30","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1111\/aos.13972_502","volume":"96","author":"KD Laboratories","year":"2018","unstructured":"Laboratories KD, Genetics M, Health O et al (2018) Standards and guidelines for the interpretation of sequence variants. Acta Ophthalmol 96(S261):134\u2013134. https:\/\/doi.org\/10.1111\/aos.13972_502","journal-title":"Acta Ophthalmol"},{"issue":"February","key":"2814_CR31","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.heares.2014.12.006","volume":"320","author":"S Lenarduzzi","year":"2015","unstructured":"Lenarduzzi S, Vozzi D, Morgan A, Rubinato E, D\u2019Eustacchio A, Osland TM, Rossi C et al (2015) Usher syndrome: an effective sequencing approach to Establish a genetic and clinical diagnosis. Hear Res 320(February):18\u201323. https:\/\/doi.org\/10.1016\/j.heares.2014.12.006","journal-title":"Hear Res"},{"issue":"10","key":"2814_CR32","doi-asserted-by":"publisher","first-page":"1318","DOI":"10.1038\/ejhg.2014.283","volume":"23","author":"E Lenassi","year":"2015","unstructured":"Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Heather B, Steele-Stallard AT, Moore et al (2015) A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of Disease-Causing variants. Eur J Hum Genet 23(10):1318\u20131327. https:\/\/doi.org\/10.1038\/ejhg.2014.283","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"2814_CR33","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1186\/s12886-023-02948-8","volume":"23","author":"M Marwan","year":"2023","unstructured":"Marwan M, Dawood M, Ullah M, Shah IU, Khan N, Hassan MT, Karam M et al (2023) Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families. BMC Ophthalmol 23(1):205. https:\/\/doi.org\/10.1186\/s12886-023-02948-8","journal-title":"BMC Ophthalmol"},{"issue":"1","key":"2814_CR34","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","volume":"17","author":"W McLaren","year":"2016","unstructured":"McLaren W, Gil L, Hunt SE, Riat HS, Graham RS, Ritchie A, Thormann P, Flicek, and Fiona Cunningham (2016) The ensembl variant effect predictor. Genome Biol 17(1):122. https:\/\/doi.org\/10.1186\/s13059-016-0974-4","journal-title":"Genome Biol"},{"issue":"April","key":"2814_CR35","doi-asserted-by":"publisher","first-page":"1384094","DOI":"10.3389\/fgene.2024.1384094","volume":"15","author":"R Mkaouar","year":"2024","unstructured":"Mkaouar R, Riahi Z, Marrakchi J, Mezzi N, Romdhane L, Boujemaa M, Dallali H et al (2024) Current phenotypic and genetic spectrum of syndromic deafness in tunisia: paving the way for precision auditory health. Front Genet 15(April):1384094. https:\/\/doi.org\/10.3389\/fgene.2024.1384094","journal-title":"Front Genet"},{"issue":"4","key":"2814_CR36","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1097\/MAO.0000000000002588","volume":"41","author":"LP Molina-Ram\u00edrez","year":"2020","unstructured":"Molina-Ram\u00edrez LP, Lenassi E, Ellingford JM, Panagiotis I, Sergouniotis SC, Ramsden IA, Bruce, Graeme CM, Black (2020) Establishing Genotype\u2013Phenotype correlation in USH2A-Related disorders to personalize audiological surveillance and rehabilitation. Otology Neurotology 41(4):431\u2013437. https:\/\/doi.org\/10.1097\/MAO.0000000000002588","journal-title":"Otology Neurotology"},{"issue":"1","key":"2814_CR37","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1002\/humu.9042","volume":"20","author":"C N\u00e1jera","year":"2002","unstructured":"N\u00e1jera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Mill\u00e1n JM, Ayuso C (2002) Mutations in Myosin VIIA (MYO7A) and Usherin (USH2A) in Spanish patients with usher syndrome types I and II, respectively. Hum Mutat 20(1):76\u201377 https:\/\/doi.org\/10.1002\/humu.9042","journal-title":"Hum Mutat"},{"issue":"1","key":"2814_CR38","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1007\/s11033-024-09603-5","volume":"51","author":"M Ouarhache","year":"2024","unstructured":"Ouarhache M, Kettani O, Fizazi KE, Bouguenouch L, Ouldim K (2024) A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with Usher syndrome. Mol Biol Rep 51(1):683. https:\/\/doi.org\/10.1007\/s11033-024-09603-5","journal-title":"Mol Biol Rep"},{"issue":"7","key":"2814_CR39","doi-asserted-by":"publisher","first-page":"984","DOI":"10.15252\/emmm.201403976","volume":"6","author":"E Pepermans","year":"2014","unstructured":"Pepermans E, Michel V, Goodyear R, Bonnet C, Abdi S, Dupont T, Gherbi S et al (2014) The CD2 isoform of Protocadherin-15 is an essential component of the Tip\u2010link complex in mature auditory hair cells. EMBO Mol Med 6(7):984\u2013992. https:\/\/doi.org\/10.15252\/emmm.201403976","journal-title":"EMBO Mol Med"},{"issue":"3","key":"2814_CR40","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/humu.24150","volume":"42","author":"VG Peter","year":"2021","unstructured":"Peter VG, Quinodoz M, Sadio S, Held S, Rodrigues M, Soares M, Sousa AB, Coutinho Santos L, Damme M, Rivolta C (2021) New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. Hum Mutat 42(3):261\u2013271 https:\/\/doi.org\/10.1002\/humu.24150","journal-title":"Hum Mutat"},{"issue":"3","key":"2814_CR41","doi-asserted-by":"publisher","first-page":"e0120584","DOI":"10.1371\/journal.pone.0120584","volume":"10","author":"Z Riahi","year":"2015","unstructured":"Riahi Z, Bonnet C, Zainine R, Lahbib S, Bouyacoub Y, Bechraoui R, Jih\u00e8ne Marrakchi, et al (2015) Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. PLoS ONE 10(3):e0120584. https:\/\/doi.org\/10.1371\/journal.pone.0120584","journal-title":"PLoS ONE"},{"issue":"9","key":"2814_CR42","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1136\/jmg.2006.041954","volume":"43","author":"A-F Roux","year":"2006","unstructured":"Roux A-F, Faug\u00e8re V, Le Gu\u00e9dard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S et al (2006) Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of Cadherin 23 and Protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet 43(9):763\u2013768. https:\/\/doi.org\/10.1136\/jmg.2006.041954","journal-title":"J Med Genet"},{"issue":"7","key":"2814_CR43","doi-asserted-by":"publisher","first-page":"4063","DOI":"10.1167\/iovs.10-6869","volume":"52","author":"A-F Roux","year":"2011","unstructured":"Roux A-F, Faug\u00e8re Val\u00e9rie, Vach\u00e9 C, Baux D, Besnard T, L\u00e9onard S, Catherine Blanchet, et al (2011) Four-Year Follow-up of diagnostic service in USH1 patients. Invest Opthalmology Visual Sci 52(7):4063. https:\/\/doi.org\/10.1167\/iovs.10-6869","journal-title":"Invest Opthalmology Visual Sci"},{"issue":"12","key":"2814_CR44","doi-asserted-by":"publisher","first-page":"5532","DOI":"10.1167\/iovs.08-2009","volume":"49","author":"MA Sandberg","year":"2008","unstructured":"Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Thaddeus P, Dryja, and Eliot L. Berson (2008) Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Opthalmology Visual Sci 49(12):5532\u20135539. https:\/\/doi.org\/10.1167\/iovs.08-2009","journal-title":"Invest Opthalmology Visual Sci"},{"key":"2814_CR45","first-page":"1717","volume":"20","author":"A Sodi","year":"2014","unstructured":"Sodi A, Mariottini A, Passerini I, Murro V, Tachyla I, Bianchi B, Menchini U, and Francesca Torricelli (2014) MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. Mol Vis 20:1717\u20131731","journal-title":"Mol Vis"},{"issue":"3","key":"2814_CR46","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.1167\/iovs.17-23312","volume":"59","author":"T Sun","year":"2018","unstructured":"Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y (2018) Comprehensive molecular screening in Chinese Usher syndrome patients. Invest Opthalmology Visual Sci 59(3):1229\u20131237. https:\/\/doi.org\/10.1167\/iovs.17-23312","journal-title":"Invest Opthalmology Visual Sci"},{"key":"2814_CR47","doi-asserted-by":"publisher","first-page":"251584142095219","DOI":"10.1177\/2515841420952194","volume":"12","author":"M Toms","year":"2020","unstructured":"Toms M, Pagarkar W, and Mariya Moosajee (2020) Usher syndrome: clinical Features, molecular genetics and advancing therapeutics. Therapeutic Adv Ophthalmol 12:251584142095219. https:\/\/doi.org\/10.1177\/2515841420952194","journal-title":"Therapeutic Adv Ophthalmol"},{"issue":"11","key":"2814_CR48","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1007\/s00439-022-02441-0","volume":"141","author":"HM Velde","year":"2022","unstructured":"Velde HM, Reurink J, Held S, Catherina HZ, Li S, Yzer J, Oostrik J, Weeda et al (2022) Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. Hum Genet 141(11):1723\u20131738. https:\/\/doi.org\/10.1007\/s00439-022-02441-0","journal-title":"Hum Genet"},{"key":"2814_CR49","first-page":"1662","volume":"17","author":"D Vozzi","year":"2011","unstructured":"Vozzi D, Aasp\u00f5llu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Maigi K\u00fclm, et al (2011) Molecular epidemiology of Usher syndrome in Italy. Mol Vis 17:1662\u20131668","journal-title":"Mol Vis"},{"issue":"2","key":"2814_CR50","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1111\/cge.13868","volume":"99","author":"TT Wafa","year":"2021","unstructured":"Wafa TT, Faridi R, King KA, Zalewski C, Yousaf R, Schultz JM, Morell RJ et al (2021) Vestibular Phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome. Clin Genet 99(2):226\u2013235. https:\/\/doi.org\/10.1111\/cge.13868","journal-title":"Clin Genet"},{"issue":"10","key":"2814_CR51","doi-asserted-by":"publisher","first-page":"6213","DOI":"10.1167\/iovs.14-14936","volume":"55","author":"J Wang","year":"2014","unstructured":"Wang J, Zhang VW, Feng Y, Tian X, Li F-Y, Truong C, Wang G, Chiang P-W, Lewis RA, Wong L-JC (2014) Dependable and efficient clinical utility of target Capture-Based deep sequencing in molecular diagnosis of retinitis pigmentosa. Invest Opthalmology Visual Sci 55(10):6213\u20136223. https:\/\/doi.org\/10.1167\/iovs.14-14936","journal-title":"Invest Opthalmology Visual Sci"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-025-02814-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-025-02814-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-025-02814-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T04:14:21Z","timestamp":1767759261000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-025-02814-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,7]]},"references-count":51,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,12]]}},"alternative-id":["2814"],"URL":"https:\/\/doi.org\/10.1007\/s00439-025-02814-1","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,7]]},"assertion":[{"value":"20 November 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This genetic study was approved by the ethics committee for the biomedical research of Rabat (N\u00b0 09\/19).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed written consent was obtained from all the participants and legal guardians in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}}],"article-number":"12"}}