Skip to main content

Table 4 Molecular alterations detected in 180 individuals

From: Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

No. of cases Alterations detected Gene(s) Onset Severity
20 c.35delG/c.35delG GJB2 Prelingual Severe/profound
3 p.V27I/wt GJB2 Prelingual/postlingual Moderade/profound
2 c.35delG/wt GJB2 Postlingual Moderade/profound
2 p.M34T/wt GJB2 Prelingual/postlingual Moderade/profound
2 p.V609G/wt SLC26A4 Prelingual/postlingual Severe/profound
2 m.1555A > G MT-RNR1 Postlingual Moderade/profound
1 c.35delG/wt; ΔGJB6-D13S1830/wt GJB2; GJB6 Prelingual Profound
1 c.35deG/p.L90P GJB2 Postlingual Moderade
1 c.35delG/c.-23 + 1G > A GJB2 Prelingual Profound
1 c.35delG/c.167delT GJB2 Prelingual Moderade-severe
1 c.35delG/p.W172* GJB2 Prelingual Profound
1 p.35delG/p.M34T GJB2 Postlingual Moderade
1 p.E47*/wt; ΔGJB6-D13S1830/wt GJB; GJB6 Prelingual Profound
1 p.K168R/wt GJB2 Postlingual Profound
1 p.M34T/p.V37I GJB2 Postlingual Moderade
1 p.L90P/wt GJB2 Postlingual Moderade
1 p.V37I/p.V95M GJB2 Postlingual Profound
1 p.R184P/c.35delG GJB2 Prelingual Profound
1 p.V27I/p.E114G GJB2 Postlingual Moderade
1 p.W24*/p.W24* GJB2 Postlingual Profound
1 p.R75Q/wt GJB2 Postlingual Moderade
1 p.V27I/wt; p.V609G/wt GJB2; SLC26A4 Postlingual Profound
1 p.V138F/wt SLC26A4 Postlingual Profound
1 p.V609G/wt; c.5800_5801dupC/wt SLC26A4; OTOF Postlingual Profound
1 p.R776C/wt SLC26A4 Postlingual Profound
1 p.R1746Q/wt CDH23 Postlingual Moderade
1 m.7445A > G MT-TS1 Prelingual Profound
1 p.S3525G/wt MYO15A Prelingual Profound
1 ΔGJB6-D13S1854/wt GJB6 Postlingual Moderade
  1. wt wild type. *translation termination (stop) codon.  Alterations in bold were detected by conventional techniques