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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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172