WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome

Table 1 Demographics of the probands in the present study

Family	Sex	Age	Genotypes	Hearing Loss			Other phenotypes
Family	Sex	Age	Genotypes	Onset (yr)	Severity*	Configuration	Optic atrophy	Diabetes mellitus	Neurologic Examination	Age of Cochlear Implant
SH 486	M	56	c.1544_1545insA	4	profound	HF	normal	normal	normal	56
SH 550	F	34mo	c.2051 C > T	1	severe	flat	normal	normal	normal	29mo
SH 592	M	13mo	c.2051 C > T	1	severe	flat	normal	normal	normal	Scheduled

LF: low-frequency sensorineural hearing loss, MF: middle-frequency sensorineural hearing loss, HF: high-frequency sensorineural hearing loss, N/A: not available;
* Severity: mild(20-40dB), moderate(41-70dB), severe(71-90dB), profound(> 90dB).

ISSN: 1755-8794