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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0276-v1Release info

Latest

Research title

Development of a general-purpose genetic diagnostic panel for Gorlin syndrome and its application to liquid biopsy

Research overview

Aims
The responsible gene for Gorlin syndrome is PTCH1. Early diagnosis by genetic testing is necessary. In this study, we will create a generic genetic diagnostic panel for Gorlin syndrome. The following points will be verified. (1) To validate the usefulness of a general-purpose genetic diagnostic panel test that can detect genomic mutations in the four genes (PTCH1, PTCH2, SMO, and SUFU) that are thought to cause Gorlin syndrome. (2) Extract genomic DNA from peripheral blood samples, oral tissues, and cysts and analyze them with a next-generation sequencer to verify the usefulness of a genetic diagnostic panel test from blood samples, which is less invasive than pathological specimen collection, and whether the same results can be obtained from blood-derived DNA as from tissue-derived DNA.
Methods
Genomic DNA is extracted from a portion of tissues, oral tissues, and blood samples removed during surgery between October 2014 and March 2025 from patients with Gorlin syndrome who have given consent for this study. Similarly, genomic DNA is extracted from leftover blood samples taken by blood relatives of patients with Gorlin syndrome who have consented to participate in this study, when needed for the purpose of diagnosing other diseases or for preoperative testing for general anesthesia. Libraries are prepared from the extracted DNAs and they are subjected to the next-generation sequencing analysis. Four genes (PTCH1, PTCH2, SMO, and SUFU) that may cause the disease are targeted and mutation analysis was performed.
Participants/materials
The research subjects are patients with Gorlin syndrome treated at the Chiba Dental Center of the Tokyo Dental University, Suidobashi Hospital, and Ichikawa General Hospital who have consented to participate in this study, and undiagnosed blood relatives.
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000419NGS (Target Capture)
  • Targeted DNA sequencing
Controlled-access (Type I)2021-10-01

Data provider

Principal investigator
Toshifumi Azuma
Affiliation
Department of Biochemistry, Tokyo Dental College

Research projects

NameURL
Tokyo dental College Research Branding Project
N/A

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Scientific Research (C)
Establishment and application of an odontogenic keratocyst model using Gorlin syndrome-derived iPS cells
  • 18K09753
KAKENHI Grant-in-Aid for Scientific Research (B)
The osteoblast differentiation and calcification mechanism of GNAS-cAMP pathway using diseased iPS cells
  • 18H03007
Tokyo dental College Research Branding Project
Development of a diagnostic gene panel for Gorlin syndrome that can be applied in liquid biopsy
N/A

Related publications

No related publications.

Controlled access users

Principal investigatorAffiliationCountry/RegionResearch titlePeriod of data useDataset ID
Satoshi YuharaSRL inc./ H.U. Group Research Institute G.K.JapanValidation of Rare Disease Clinical Reporting System2024-07-01 – 2026-07-01