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Table 1 Clinical and genetic information of the probands in the affected families

From: Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

  Family 295 Family 572 Family 667 Family 1225 Family 1535
Country origin Turkey Turkey Turkey Ecuador Nigeria
POU3F4 c.772delG c.346delG c.707A>C c.902C>T c.987T>C
Mutation p.(Glu258ArgfsX30) p.(Ala116Profsx26) p.(Glu236Ala) p.(Pro301Leu) p.(Ile308Thr)
Age of onset Congenital <5 years <5 years <5 years <5 years
Pattern of inheritance Multiplex-X linked Simplex Simplex Multiplex-X linked Multiplex-X linked
Hearing loss type Sensorineural Sensorineural Sensorineural Mixed Mixed
Hearing loss severity Moderate to severe Severe Profound Severe Severe
Laterality Bilateral Bilateral Bilateral Bilateral Bilateral
Inner Ear Anomaly Basal turns of cochlea are incompletely separated from IAC which was dilated in the lateral end; modioli are absent Dilated IAC, absence of modioli, interscalar septum is present Bulbous enlargement of IAC; modioli are absent N/A N/A
Intervention Hearing aids Cochlear implant Hearing aids Hearing aids Hearing aids