NBDC Research ID: hum0202.v1
SUMMARY
Aims: To analyze genetic background of congenital to prelingual childhood-onset hearing loss to increase efficacy of auditory, speech, and language therapy.
Methods: DNA samples extracted from peripheral blood samples of prelingual childhood-onset hearing loss patients and their parents were subjected for subsequent genomic analyses. Auditory tests were also underwent.
Participants/Materials: Patients and their parents
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000379 | NGS (Exome) | Controlled-access (Type I) | 2022/09/09 |
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MOLECULAR DATA
| Participants/Materials |
Congenital hearing loss (ICD10: H905): 3 cases and their parents (Total: 9 samples) |
| Targets | Exome |
| Target Loci for Capture Methods | 46 variants |
| Platform | Illumina [HiSeq 2500/4000] |
| Library Source | DNAs extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) |
Nextera Rapid Capture Exome kit SureSelect Human All Exon v5 |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 126 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000493 |
| Total Data Volume | 34.7 kB (xlsx [ref: GRCh37]) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Tatsuo Matsunaga
Affiliation: Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KEKENHI Gran-in-Aid for Scientific Research (C) | Molecular functional analysis of ZBTB10, the novel candidate deafness gene associated with cochlear nerve hypoplasia | 15K10773 |
| KEKENHI Gran-in-Aid for Scientific Research (C) | Molecular, Cellular, and in vivo analysis of SLC12A2, a novel candidate of deafness gene | 18K09336 |
| National Hospital Organization Collaborative Clinical Research | Study of Genetic Background and Time Course of Congenital Hearing Loss to Increase Efficacy of Auditory, Speech, and Language Therapy. | H27-NHO-02 |
| Tailor-Made Medical Treatment with the BioBank Japan Project (BBJ), Japan Agency for Medical Research and Development (AMED) | Multi-Centered Genome-Associated Research for Congenital Hearing Loss and H7N9 Vaccine and Development of the Sample Banking System to BBJ for the Collected Samples | JP15km0305011 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Variants Encoding a Restricted Carboxy-Terminal Domain of SLC12A2 Cause Hereditary Hearing Loss in Humans | doi: 10.1371/journal.pgen.1008643 | JGAD000493 |
| 2 |
USRES (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
