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Table 1 Reported Mutations in the POU3F4 Gene Resulting in DFNX2 Phenotypes

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 2.6 kb, 6.5 kb, 7 kb, 4.4 kb NA U NA NA Korea [22]
del 8 kb NA U Mixed Yes Korea [22]
de30 kb NA U Mixed Yes Korea [22]
del 20 kb NA U Mixed Yes Korea [22]
del 130 kb NA U Mixed Yes Korea [22]
del 200 kb NA U Mixed Yes Korea [22]
del 220 kb NA U Mixed Yes Korea [22]
del530 kb NA U SNHL Yes US [23]
del 1200 kb NA U SNHL Yes Spain [24]
del entire gene NA Entire gene Mixed Yes Korea [22]
c.79C > 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 [19, 28]
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.559G > 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 [19, 29, 33]
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.650 T > 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.823C > 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.916C > T p.Gln306* H SNHL Yes Poland, [19]
c.923 T > 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.971 T > 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]
  1. afs frameshift, NA not available, bH and S indicate the POU-homeodomain and POU-specific domain respectively; U Upstream, D Downstream, cSNHL sensorineural HL, Mixed mixed HL