Research Article
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] |
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