Literature DB >> 21739586

A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.

Maarten Vanwesemael1, Isabelle Schrauwen, Ruben Ceuppens, Fatemeh Alasti, Ellen Jorssen, Effat Farrokhi, Morteza Hashemzadeh Chaleshtori, Guy Van Camp.   

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Year:  2011        PMID： 21739586     DOI： 10.1002/ajmg.a.34096

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.

Authors:  Abdullah A Gibriel; Maha H Abou-Elew; Saber Masmoudi
Journal:  Mol Biol Rep       Date:  2019-02-07       Impact factor: 2.316

2.  The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.

Authors:  Majida Charif; Safaa Bounaceur; Omar Abidi; Halima Nahili; Hassan Rouba; Mostafa Kandil; Redouane Boulouiz; Abdelhamid Barakat
Journal:  Mol Biol Rep       Date:  2012-10-08       Impact factor: 2.316

3.  USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.

Authors:  Thomas J Jaworek; Rashid Bhatti; Noreen Latief; Shaheen N Khan; Saima Riazuddin; Zubair M Ahmed
Journal:  J Hum Genet       Date:  2012-06-21       Impact factor: 3.172

4.  A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.

Authors:  Akram Sarmadi; Samane Nasrniya; Maryam Soleimani Farsani; Sina Narrei; Zahra Nouri; Mahsa Sepehrnejad; Mohammad Hussein Nilforoush; Hamidreza Abtahi; Mohammad Amin Tabatabaiefar
Journal:  BMC Med Genet       Date:  2020-06-09       Impact factor: 2.103
  4 in total

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