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Table 2 Overview of all LRTOMT mutations so far identified

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

Variant Codon number Exon number Phenotype Reference Population
p.Leu16Pro 16 4 Prelingual HL Du (2008) [22] Iranian
p.Ala29Serfs*54 29 4 NA Ahmed (2008) [21] Turkish
p.Met34Ilu 34 5 HL, non-syndromic Babanejad (2012) [28] Iranian
p.Ser35Serfs*13 35 5 Sensorineural HL Vanwesemael (2011) [51] Iranian
p.Glu40Asp 40 5 Prelingual profound HL Babanejad (2012) [28] Iranian
p.Arg41Trp 41 5 NA Babanejad (2012) [28] Iranian
p.Arg52Trp 52 5 Non-syndromic HL Wang (2017) [52] Pakistani
p.Arg54Gln 54 5 Prelingual moderate Ichinose (2015) [53] Japanese
p.Arg70X 70 5 Non-syndromic HL Riahi (2014) [54] Iranian
p.Tyr71X 71 5 Prelingual HL Du (2008) [22] Iranian
p.Glu80Asp 80 5 Non-syndromic HL Babanejad (2012) [28] Iranian
p.Arg81Gln 81 5 Non-syndromic HL Ahmed (2008) [21] Tunisian
p.Arg81Trp 81 5 Non-syndromic HL Babanejad (2012) [28] Iranian
p.Phe83Lue 83 5 NA Marková (2016) [55] Czech
p.Trp105Arg 105 5 Non-syndromic HL Ahmed (2008) [21] Tunisian
p.Glu110Lys 110 5 Non-syndromic HL Ahmed (2008) [21] Tunisian
p.Tyr111X 111 5 Non-syndromic HL Du (2008) [22] Iranian
p.Ala170Alafs*20 170 6 Non-syndromic HL This study Iranian
p.Ilu188Thrfs*7 188 7 Prelingual moderate Ichinose (2015) [53] Japanese
p.Arg219X 219 7 Severe-profound NSHL Sloan-Heggen (2016) [56] Not defined
  1. NA Not Available