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Mutations in TGFBR2 gene cause spontaneous cervical artery dissection
Alessandro Pezzini1, Bruno Drera, Elisabetta Del Zotto
1Dipartimento di Scienze Mediche e Chirurgiche, Clinica Neurologica, Università degli Studi di Brescia, P le Spedali Civili, 1, 25100 Brescia, Italia. ale_pezzini@hotmail.com
Journal of Neurology, Neurosurgery, and Psychiatry
|January 29, 2011
Summary
Mutations in the transforming growth factor β receptor 2 (TGFBR2) gene cause spontaneous cervical artery dissection (sCAD) in some patients. This finding highlights the importance of genetic testing for TGFBR2 in sCAD cases.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Molecular Biology
Background:
- Transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2) gene mutations are linked to hereditary connective tissue disorders with vascular issues.
- Arterial dissection is a known complication of these disorders.
Purpose of the Study:
- To investigate if mutations in TGFBR1 and TGFBR2 genes cause spontaneous cervical artery dissection (sCAD).
Main Methods:
- Sequencing of all coding exons of TGFBR1 and TGFBR2 in 56 patients diagnosed with sCAD.
- Analysis of identified mutations in relation to protein function and signaling pathways.
Main Results:
- Novel disease-causing mutations in the TGFBR2 gene were identified in two patients.
- These mutations were pK327R (kinase domain) and pC138R (extracellular domain).
- No mutations were found in the TGFBR1 gene.
Conclusions:
- TGFBR2 gene mutations are responsible for sCAD in approximately 3.6% of cases.
- These findings contribute to understanding TGFβ signaling in sCAD pathogenesis.
- Molecular characterization of TGFBR2 is important for sCAD patients, even without typical connective tissue disorder features.
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