Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

Su, Yu; Gao, Xue; Huang, Sha-Sha; Mao, Jing-Ning; Huang, Bang-Qing; Zhao, Jian-Dong; Kang, Dong-Yang; Zhang, Xin; Dai, Pu

doi:10.1186/s12881-018-0630-9

BMC Medical Genetics

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 change^a	Protein domain^b	Feature of deafness^c	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]

^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

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ISSN: 1471-2350

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