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 IDType of DataCriteriaRelease Date
JGAS000379 NGS (Exome) Controlled-access (Type I) 2022/09/09

*Release Note

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MOLECULAR DATA

JGAS000379

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):

NameTitleProject 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

TitleDOIDataset 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 InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use