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Table 1 Phenotype-driven candidate gene approach and its detection rate of a causative mutation in cochlear implantees

From: Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication

Gene Phenotype Detection rate (n/N (%))
Radiologic marker  
SLC26A4 AR, Enlarged vestibular aqueducts with or without Mondini deformity 13/13 (100%)
CHD7 AD, Charge syndrome (Mostly de novo) 7/9 (77.7%)
POU3F4 XR, Incomplete partition type III 5/5 (100%)
FGF3 AR, Complete labyrinthine aplasia or cochlear hypoplasia 0/2 (0%)
Audiologic marker   
OTOF, Pejvakin AR, Auditory neuropathy spectrum disorder 1/5 (20%)
TMPRSS3 AR, Ski slope type high frequency hearing loss 3/7 (42.8%)
Other characteristic marker  
KCNQ1 & KCNE1 AR, Long QT syndrome 1/1(100%)
Total   30/42 (71.4%)
  1. AD, autosomal dominant; AR, autosomal recessive; XR, X-linked recessive.