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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