Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
- Equal contributors
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
BMC Medical Genetics 2014, 15:46 doi:10.1186/1471-2350-15-46Published: 28 April 2014
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 . In the other families (C-K), the causative mutations in known deafness genes were not identified.
Format: TIFF Size: 73KB Download file
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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