A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

Table 2

Summary of mutations in ILDR1 that are associated with DFNB42.

Mutation (protein)	Affected domains	Hearing phenotype	Ethnic group	Reference
p.Met1Ileext+136	Signal peptide and extracellular domain	Moderate to profound	Pakistan	[3]
p.Gly20_Thr31del	Signal peptide and extracellular domain	Moderate to profound	Iranians	[3]
p.V28SfsX31	Extracellular, transmembrane, and intracellular domains	N/A	Pakistan	[3]
p.Pro69His	Extracellular domain	Postlingual onset and partial deafness	Korean	[11]
p.Arg97Gln	Extracellular domain	N/A	Pakistan	[3]
p.Val102Glu	Extracellular domain	Severe to profound	Iranian	[10]
p.Asn109_Pro111dup	Extracellular domain	Moderate to profound	Saudi Arabian	[9]
p.Trp137CysfsX25	Extracellular domain	N/A	Pakistan	[3]
p.G141R	Extracellular domain	Moderate to profound	Chinese	This study
p.Tyr143Cys	Extracellular domain	Moderate to profound	Iranians	[15]
p.Trp168LysfsTer47	Transmembrane and intracellular domains	Severe	Pakistan	[3]
p.Gln195X	Intracellular domain	Severe to profound	Iranians	[3]
p.Glu269ArgfsTer47	Intracellular domain	Severe to profound	United Arab Emirates	[13]
p.Q274X	Intracellular domain	N/A	Iranian	[8]
p.C314X	Intracellular domain	N/A	Iranian	[7]
p.Thr345ProfsX20	Intracellular domain	Severe	Pakistan	[3]
p.Glu379X	Intracellular domain	Severe to profound	Pakistan	[3]
p.Glu394SerfsX15	Intracellular domain	Severe	Pakistan	[3]
p.S406X	Intracellular domain	Moderate to profound	Iranian	[10]
p.Arg453Gln	Intracellular domain	Severe to profound	Pakistan	[3]