| Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness. | Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.
Salame M, Bonnet C, Moctar ECM, Brahim SM, Dedy A, Vetah LA, Veten F, Hamed CT, Petit C, Houmeida A. | 08/2/2023 |
| Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies. | Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.
Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S., Free PMC Article | 03/26/2022 |
| A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. | A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Sarmadi A, Nasrniya S, Soleimani Farsani M, Narrei S, Nouri Z, Sepehrnejad M, Nilforoush MH, Abtahi H, Tabatabaiefar MA., Free PMC Article | 10/31/2020 |
| Results indicate that mutations in the LRT)MT gene lead to alterations in the LRTOMT2 protein and might be involved in progressive sensorineural hearing loss. | Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.
Ichinose A, Moteki H, Hattori M, Nishio SY, Usami S. | 08/22/2015 |
| LRTOMT gene is the second cause of congenital hearing impairment in Moroccan patients. | The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.
Charif M, Bounaceur S, Abidi O, Nahili H, Rouba H, Kandil M, Boulouiz R, Barakat A. | 04/6/2013 |
| A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame. | A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.
Vanwesemael M, Schrauwen I, Ceuppens R, Alasti F, Jorssen E, Farrokhi E, Chaleshtori MH, Van Camp G. | 11/26/2011 |
| A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss. | Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.
Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S. | 01/21/2010 |
| The locus associated with ARNSHI | A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.
Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H. | 01/21/2010 |
| Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. | Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.
Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H. | 01/21/2010 |
| nonsense mutation in the human ortholog of the murine Comt2 gene that causes nonsyndromic deafness | A catechol-O-methyltransferase that is essential for auditory function in mice and humans.
Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Müller U, Beutler B., Free PMC Article | 01/21/2010 |
| Mutations of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. | Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H., Free PMC Article | 01/21/2010 |