Table 1.
Known mutations in POU3F4 gene and associated phenotypes.
| Nucleotide change | Amino acid change | Inheritance | CT findings | HL on set | Type of HL | Progression | Other features | Perilymphatic gusher | Year | Authors |
|---|---|---|---|---|---|---|---|---|---|---|
| Large delation | Inherited | IP3 | Congenital | Mixed | Progressive | gusher | 2005 | Vore | ||
| Large delation | Inherited | Mondini | Congenital | SNHL | Progressive | 2000 | Arellano | |||
| Large delation | Inherited | Mixed | Mental retardation | gusher | 1996 | de Kok | ||||
| Large delation | Inherited | IP3 | Congenital | Progressive | Developmental delay, MR | 2010 | Song | |||
| Large delation | De novo (Sporadic) | IP3 | 2014 | Choi | ||||||
| Deletion (Upstream and gene) | Inherited | Bony defect | Mixed | gusher | 1996 | de Kok | ||||
| Upstream delation | Inherited | Bony defect | Mixed | 1996 | de Kok | |||||
| Upstream delation | IP3 | Congenital | Mixed | 1996 | de Kok | |||||
| Upstream delation | Inherited | Congenital | SNHL | Progressive | gusher | 2010 | Naranjo | |||
| Upstream delation | De novo (Sporadic) | IP3 | Early | no | 2010 | Song | ||||
| Upstream duplication | Inherited | IP3 | Mixed | 1995 | de Kok | |||||
| Regulatory region deletion | Inherited | Bony defect | Early | Mixed | no | 2014 | Stanton | |||
| Regulatory region inversion | Inherited | IP3 | Mixed | Progressive | Developmental delay | 2013 | Anger | |||
| c.235C>T | p.G79X | De novo (Sporadic) | 2013 | Parzefall | ||||||
| c.346delG | p.A116fs | Inherited | IP3 | Congenital | Mixed | Limited verval comminication | 2009 | Lee PhyGen | ||
| c.383delG | p.G128fs | Inherited | IP3 | Early | SNHL | Progressive | 2009 | Lee | ||
| c.499C>T | p.R167X | Inherited | IP3 | Congenital | Mixed | no | Attention disorders, Learning delay | gusher | 2010 | Stankovic |
| c.540C>A | p.C180X | De novo (Sporadic) | IP3 | 2014 | Choi | |||||
| c.601-606del | p.201-202del | Inherited | Bony defect | Early | Mixed | no | gusher | 1998 | Hagiwara | |
| c.603delA | p.K202X | Inherited | Bony defect | SNHL | 1995 | de Kok | ||||
| c.623T>A | p.L208X | Inherited | IP3 | Early | SNHL | Severe | Mental retardation | 2009 | Lee | |
| c.623T>A | p.L208X | Inherited | IP3 | SNHL | 2013 | Choi | ||||
| c.632C>T | p.T211M | Inherited | IP3 | Mixed | 2013 | Choi | ||||
| c.647G>A | p.G216E | Inherited | IP3 | Congenital | SNHL | Progressive | 2010 | Li | ||
| c.648delG | p.D215X | Bony defect | Mixed | gusher | 1995 | de Kok | ||||
| c.683C>T | p.S228L | Inherited | IP3 | Congenital | Mixed | Progressive | Developmental delay | 2005 | Vore | |
| c.686A>G | p.G229R | Inherited | IP3 | SNHL | 2013 | Choi | ||||
| c.689C>T | p.T230I | Bony defect | Mixed | gusher | 1997 | Friedman | ||||
| c.727_728insA | p.N244KfsX26 | De novo (Sporadic) | IP3 | Congenital | SNHL | Progressive | Pervasive developmental disorder | gusher | 2014 | This report |
| c.853-854del | p.I285Rfs43 | 2013 | Parzefall | |||||||
| c.862-866del | p.fs | Inherited | Early | Mixed | gusher | 1995 | Binter-Glindzicz | |||
| c.895delA | p.L298X | Mixed | gusher | 1995 | de Kok | |||||
| c.910C>A | p.P303H | Inherited | IP3 | Congenital | 2014 | Choi | ||||
| c.925T>C | p.S309P | Inherited | IP3 | Congenital | Mixed | no | 2006 | Wang | ||
| c.927-929del | p.S310del | Inherited | IP3 | Early | Mixed | 2009 | Lee PhyGen | |||
| c.927-929del | p.S310del | unknown (Adopted) | IP3 | Early | Mixed | no | Learning delay | gusher | 2010 | Stankovic |
| c.935C>T | p.A312V | Inherited | Bony defect | Congenital | SNHL | Learning difficulty | 1995 | Binter-Glindzicz | ||
| c.950dupT | p.L317FfsX12 | Inherited | IP3 | Mixed | 2013 | Choi | ||||
| c.950T>G | p.L317W | Bony defect | Mixed | 1995 | de Kok | |||||
| c.967C>G | p.A323G | Mixed | gusher | 1997 | de Kok | |||||
| c.973T>A | p.W325R | Inherited | IP3 | Early | SNHL | Progressive | gusher | 2011 | Schild | |
| c.985C>G | p.R329G | IP3 | Mixed | gusher | 1997 | Friedman | ||||
| c.986G>C | p.R329G | Inherited | IP3 | Early | Mixed | Progressive | 2009 | Lee PhyGen | ||
| c.990A>T | p.A330S | Bony defect | SNHL | Progressive | Growth retardation | gusher | 1997 | de Kok | ||
| c.1000A>G | p.K334E | Mixed | Progressive | 1995 | de Kok | |||||
| c.1069delA | p.T354GfsX115 | Inherited | IP3 | SNHL | 2013 | Choi | ||||
| c.1084T>C | p.X362RexfX113 | De novo(Sporadic) | IP3 | SNHL | 2013 | Choi |
Abbreviation: IP3, incomplete partition type III; SNHL, sensorineural hearing loss. Empty rows indivate unspecified in the reports.