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Table 1 Mutations of the CDH23 gene identified in this study

From: Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population

Patient

Sex/age

Classification

Nucleotide changea

Amino acid changeb

Inheritance pattern

SH59-133

F/3

Children

c.C719T; c.C4853A

p.P240L; p.T1618K

Compound heterozygote

SH97-211

F/1

Children

c.C719T

p.P240L

Homozygote

SH164-359

F/1

Children

c.C719T

p.P240L

Homozygote

SB56-103

F/4

Children

c.C719T; c.8574delC

p.P240L;p.Asp2858GlufsX8

Compound heterozygote

  1. aNM_022124.
  2. bNP_071407.
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Journal of Translational Medicine

ISSN: 1479-5876

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