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A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
M. Skalníková, K. Staňo Kozubík, J. Trizuljak, Z. Vrzalová, L. Radová, K. Réblová, R. Holbová, T. Kurucová, H. Svozilová, J. Štika, I. Blaháková, B. Dvořáčková, M. Prudková, O. Stehlíková, M. Šmída, L. Křen, P. Smejkal, Š. Pospíšilová, M. Doubek
Jazyk angličtina Země Švýcarsko
Typ dokumentu kazuistiky, časopisecké články
Grantová podpora
MUNI/11/SUP/22/2020; MUNI/A/1595/2020
Masaryk University
NU20-08-00137
Ministry of Health of the Czech Republic
CZ.02.1.01/0.0/0.0/16_026/0008448
European Regional Development Fund-Project "A-C-G-T"
LM2018127, LM2018132
MEYS CR
NLK
Free Medical Journals
od 2000
Freely Accessible Science Journals
od 2000
PubMed Central
od 2007
Europe PubMed Central
od 2007
ProQuest Central
od 2000-03-01
Open Access Digital Library
od 2000-01-01
Open Access Digital Library
od 2007-01-01
Health & Medicine (ProQuest)
od 2000-03-01
ROAD: Directory of Open Access Scholarly Resources
od 2000
PubMed
35055070
DOI
10.3390/ijms23020885
Knihovny.cz E-zdroje
- MeSH
- alely * MeSH
- Bernardův-Soulierův syndrom krev diagnóza genetika MeSH
- fenotyp * MeSH
- genetická predispozice k nemoci * MeSH
- genetická variace * MeSH
- genetické asociační studie MeSH
- imunofenotypizace MeSH
- lidé MeSH
- mutační analýza DNA MeSH
- počet trombocytů MeSH
- rodokmen MeSH
- trombocytopenie krev diagnóza MeSH
- trombocytový glykoproteinový komplex Ib-IX genetika metabolismus MeSH
- trombocyty metabolismus ultrastruktura MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Geografické názvy
- Česká republika MeSH
Bernard-Soulier syndrome (BSS) is a rare inherited disorder characterized by unusually large platelets, low platelet count, and prolonged bleeding time. BSS is usually inherited in an autosomal recessive (AR) mode of inheritance due to a deficiency of the GPIb-IX-V complex also known as the von Willebrand factor (VWF) receptor. We investigated a family with macrothrombocytopenia, a mild bleeding tendency, slightly lowered platelet aggregation tests, and suspected autosomal dominant (AD) inheritance. We have detected a heterozygous GP1BA likely pathogenic variant, causing monoallelic BSS. A germline GP1BA gene variant (NM_000173:c.98G > A:p.C33Y), segregating with the macrothrombocytopenia, was detected by whole-exome sequencing. In silico analysis of the protein structure of the novel GPIbα variant revealed a potential structural defect, which could impact proper protein folding and subsequent binding to VWF. Flow cytometry, immunoblot, and electron microscopy demonstrated further differences between p.C33Y GP1BA carriers and healthy controls. Here, we provide a detailed insight into its clinical presentation and phenotype. Moreover, the here described case first presents an mBSS patient with two previous ischemic strokes.
Citace poskytuje Crossref.org
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