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Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

Hae-Mi Woo1, Hong-Joon Park2, Mi-Hyun Park1, Bo-Young Kim1, Joong-Wook Shin2, Won Gi Yoo3 and Soo Kyung Koo1*

Author Affiliations

1 Division of Intractable Diseases, Center for Biomedical Sciences, National Institute of Health, Chungcheongbuk-do 363-951, South Korea

2 Soree Ear Clinic, Seoul, South Korea

3 Division of Malaria and Parasitic Diseases, Center for Immunology and Pathology, National Institute of Health, Chungcheongbuk-do South Korea

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BMC Medical Genetics 2014, 15:46  doi:10.1186/1471-2350-15-46

Published: 28 April 2014

Additional files

Additional file 1: Figure S1:

Pedigrees of two families with ARNSHL, and audiogram of patient SR-209. (A) Filled symbols in each pedigree represent affected individuals. The proband is indicated by an arrow. Asterisks indicate available samples. The two individuals whose exomes were sequenced are shown in red. (B) Audiogram of patient SR-209. No audiogram is available for SR-106, only ABR data.

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Additional file 2: Figure S2:

Pedigrees of 11 families with ARNSHL. All families comprised normally hearing parents and two affected siblings. Asterisks indicate sequenced sample. Two (A and B) of 11 families had causative MYO15A mutation [18]. In the other families (C-K), the causative mutations in known deafness genes were not identified.

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Additional file 3: Table S1:

Results of exome sequencing in two individuals with ARNSHL. Table S2. List of the 55 deafness genes that were used to filter variants. Table S3. Candidate variants identified in this study.

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