Fig. 1From: 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 populationA diagnostic flow chart of the enrolled subjects. Of a total of 438 subjects with various onset and degree of sensorineural hearing loss (SNHL) diagnosed from 2010 to 2014 at SNUH or SNUBH, 128 with the prelingual onset of a severe-to-profound degree of hearing loss, and with an autosomal recessive (AR) or sporadic hereditary pattern were included in this study. The 310 subjects either with pre-lingual mild to moderate degree SNHL or with post-lingual SNHL subjects are excluded from the present study. SLC26A4 and/or GJB2 were sequenced, and the p.P240L of CDH23 was screened in subjects without SLC26A4 or GJB2 mutations. One of the subjects (SB166-208) with post-lingual SNHL identified to carry p.P240L of CDH23 is included in the STR marker genotyping analysis. Next, targeted resequencing (TRS) of the 80˗204 known deafness genes was performed. Asterisks indicates MYO15A compound heterozygotes; SB77-133, SH10-28, SHJ23, dagger indicates MYO7A compound heterozygotes; SH156-272, SH91-202, SB71-123. Control group I (272 subjects) was assigned for p.P240L mutation screening and control group II (40 subjects) was assigned for STR genotyping. All control groups showed normal hearing.Back to article page