Table 2: Patients details with pathogenic variants in the connexin 26 gene.

ANSD Case 18 Case 19 Case 33 Case 7 *
Gender Male Male Male Male
Age (at diagnosis) Congenital Congenital Congenital Adult
OAE + + - +
ABR absent absent absent absent
CM - - + -
GJB2 Genotype c.35delG/c.35delG c.35delG/c.35delG c.35delG/c.35delG IVS1+G>A/wt
Pure Tone Thresholds 50-70 dB 60-80 dB 80-100 dB 40-70 dB
IRF 68% NA 50% 72%
LRF 65 dB 70 dB 60 dB 40 dB
Past History None None Preterm baby (35 wks) NICU (5 d) None
CT/MNR Normal Normal Normal Normal
Treatment CI +HA + speech therapy CI + HA + speech therapy CI + HA + speech therapy HA + speech therapy
Ps. detects plate and barrel in behavioral audiometry with hearing aids and / a / & / u / Understanding speech difficulty; PTA oscillations; Some audiogram similar to conductive HL

Ps.: M: male; F: female; +: positive; -: negative; N/A: not available; wt: wild type; CI: cochlear implant; HA: hearing aids. PTA: pure tone audiometry; HL: hearing loss. NICU: neonatal unity care unity.