From: Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
Nucleotide change | Amino acid changea | Protein domainb | Feature of deafnessc | Defects on temporal bone CT | Location | References |
---|---|---|---|---|---|---|
del 2.6Â kb, 6.5Â kb, 7Â kb, 4.4Â kb | NA | U | NA | NA | Korea | [22] |
del 8Â kb | NA | U | Mixed | Yes | Korea | [22] |
de30 kb | NA | U | Mixed | Yes | Korea | [22] |
del 20Â kb | NA | U | Mixed | Yes | Korea | [22] |
del 130Â kb | NA | U | Mixed | Yes | Korea | [22] |
del 200Â kb | NA | U | Mixed | Yes | Korea | [22] |
del 220Â kb | NA | U | Mixed | Yes | Korea | [22] |
del530 kb | NA | U | SNHL | Yes | US | [23] |
del 1200Â kb | NA | U | SNHL | Yes | Spain | [24] |
del entire gene | NA | Entire gene | Mixed | Yes | Korea | [22] |
c.79CÂ >Â T | p.Gln27* | U | SNHL | Yes | Poland, | [19] |
c.293C > A | p.Ser98* | U | Mixed | Yes | France | [26] |
c.341G > A | p.Trp114* | U | SNHL | Yes | Pakistan | [27] |
c.346delG | p.Ala116Profs | U | SNHL, Mixed | Yes | Poland,Turkey | |
c.383delG | p.Gly128 fs | U | SNHL | Yes | Korea | [29] |
c.406C > T | p.Gln136* | U | SNHL | Yes | Pakistan | [27] |
c.499 C > T | p.Arg167* | U | Mixed | Yes | Korea | [30] |
c.530C > A | p.Ser177* | U | SNHL | Yes | China | [31] |
c.559GÂ >Â T | p.Glu187* | U | SNHL | Yes | Poland, | [19] |
601–606delTTCAAA | p.Phe201/Lys202 del | S | Mixed | Yes | Japan | [32] |
603-610delCAAA | p.Lys202 fs | S | SNHL | Yes | Netherlands | [5] |
c.623 T > A | p. Leu208* | S | SNHL | Yes | Poland,Korea | |
c.632C > T | p.Thr211Met | S | Mixed | Yes | Korea | [33] |
c.647G > A | p.Gly216 Glu | S | SNHL | Yes | China | [11] |
c.648-651delG | p.Arg215 fs | S | Mixed | Yes | Netherlands | [5] |
c.650Â TÂ >Â A | p.Leu217* | S | SNHL | Yes | Poland | [19] |
c.669 T > A | p.Tyr223* | S | SNHL | Yes | China | Present study |
c. 683C > T | p.Ser228Leu | S | SNHL | Yes | US | [23] |
c.686A > G | p.Gln229Arg | S | SNHL | Yes | Korea | [33] |
c.689C > T | p.Thr230Ile | S | Mixed | Yes | US | [34] |
c.707A > C | p.Glu236Ala | S | SNHL | Yes | Turkey | [28] |
NA | p.Glu236Asp | S | NA | No | France | [26] |
c.727_728insA | p.Asn244Lysfs*26 | S | SNHL | Yes | Japan | [18] |
NA | p.Arg282Gln | H | NA | No | France | [26] |
NA | p.Ile285Asn | H | NA | NA | France | [26] |
c.772delG | p. Glu 258Argfs | H | SNHL | Yes | Turkey | [28] |
c.823CÂ >Â T | p.Gln275* | H | SNHL | Yes | Poland | [19] |
c.862del4 | p.Ser288Gln fs*37 | H | Mixed | Yes | UK | [35] |
NA | p.Ser288Cys fs*40 | H | NA | No | France | [26] |
c.895delA | p.Leu298 fs | H | Mixed | Yes | Netherlands | [5] |
c.902C > T | p.Pro301Leu | H | SNHL | NA | Ecuador | [28] |
c.907C > T | p.Pro303Ser | H | Mixed | Yes | UK | [25] |
c.916CÂ >Â T | p.Gln306* | H | SNHL | Yes | Poland, | [19] |
c.923Â TÂ >Â A | p.Ile308Asn | H | Mixed | Yes | France | [26] |
NA | p.Ile308 Ile fs*28 | H | NA | No | France | [26] |
c.925 T > C | p.Ser309Pro | H | SNHL | Yes | China | [36] |
c.927delCTC | p.Ser310del | H | Mixed | Yes | Korea, China | [37] Present study |
c.935C > T | p.Ala312Val | H | SNHL | Yes | UK | [35] |
c.950 T > G | p.Leu317Trp | H | Mixed | Yes | Netherlands | [5] |
c.950dupT | p. Leu317Phefs*12 | H | SNHL | Yes | Korea | [33] |
c.967C > G | p.Arg323Gly | H | Mixed | Yes | Korea | [38] |
c.971Â TÂ >Â A | p.Val324Asp | H | SNHL | Yes | Poland, | [19] |
c.973delT | p.Trp325Glyfs*12 | H | Mixed | Yes | China | Present study |
c.973 T > A | p.Trp325Arg | H | SNHL | Yes | Germany | [39] |
c. 983A > C | p.Asn328Thr | H | Mixed | Yes | UK | [25] |
c.985C > G | p.Arg329Gly | H | Mixed | Yes | US | [34] |
c.986G > C | p.Arg329Pro | H | Mixed | Yes | Korea | [37] |
c.987 T > C | p.Leu308Thr | H | SNHL | NA | Nigeria | [28] |
c.990A > T | p.Arg330Ser | H | SNHL | Yes | Netherlands | [5] |
c.1000A > G | p.Lys334Glu | H | Mixed | Yes | Netherlands | [5] |
c.1069delA | p. Thr 354Glnfs*115 | D | SNHL | Yes | Korea | [33] |
c.1084 T > C | p.X362Argexf*113 | D | SNHL | Yes | Korea | [33] |