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

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