PXD043691

PXD043691 is an original dataset announced via ProteomeXchange.

Title	Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system
Description	Classical-like Ehlers–Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in TNXB. Accurate detection of TNXB variants is challenging because of the presence of the pseudogene TNXA, which can undergo non-allelic homologous recombination. Therefore, we designed a genetic screening system that is performed using similar operations to other next-generation sequencing (NGS) panel analyses and can be applied to accurately detect TNXB variants and the recombination of TNXA-derived sequences into TNXB. We also analyzed the levels of serum form of TNX (sTNX) by Western bot and LC/MS/MS. Using this system, we identified biallelic TNXB variants in nine unrelated clEDS patients. This report is the first to apply an NGS-based screening for TNXB variants and represents the third largest cohort of clEDS.
HostingRepository	PRIDE
AnnounceDate	2023-08-09
AnnouncementXML	Submission_2023-08-08_18:00:50.761.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	KazuoYamada
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	TSQ Quantum Access

Revision	Datetime	Status	ChangeLog Entry
0	2023-07-11 19:16:41	ID requested
⏵ 1	2023-08-08 18:00:51	announced

Dataset with its publication pending

submitter keyword: NGS, LC/MS/MS, Tenascin-X,Classical-like Ehlers–Danlos syndrome

TomomiYamaguchi
contact affiliation	Shinshu University
contact email	t_yamaguchi@shinshu-u.ac.jp
lab head
KazuoYamada
contact affiliation	Department of Legal Medicine, Shimane University
contact email	yamadak@med.shimane-u.ac.jp
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2023/08/PXD043691

PRIDE project URI

• PRIDE
  1. PXD043691
     1. Label: PRIDE project
     2. Name: Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system