Evidence for genetic heterogeneity in Carvajal syndrome

Cell and Tissue Research
Nancy NehmeP Bouvagnet

Abstract

Carvajal syndrome is a rare syndrome with woolly hair, palmoplantar keratosis and dilated cardiomyopathy. The inheritance of the mutation is autosomal recessive. As a causal gene, the desmoplakin gene (DSP) has so far been identified; it encodes an essential component of desmosomes, a cell-cell structure aimed at keeping cells attached to each other in tissues in which cells are often exposed to strong shear forces. Recently, familial cases of an autosomal dominant Carvajal syndrome were documented with a new feature: hypo/oligodontia. A mutation in the DSP gene was also evidenced in these latter cases. A patient was seen for cardiogenetic consultation at the University Hospital of Lyon with cardiac failure involving first degree atrioventricular block, complete left bundle branch block, non-compaction of the apex of the left ventricle and a dilated cardiomyopathy. A coronarography disclosed a complete thrombosis of the right coronary artery. At examination, he had also woolly hair, mild palmoplantar keratosis and missing teeth (essentially molars and premolars). His family history was uninformative. His DNA was screened for mutations in the DSP and plakoglobin genes but no mutation could be found. This case suggests that Carva...Continue Reading

References

Dec 1, 1988·American Heart Journal·N ProtonotariosG Scampardonis
Sep 17, 1998·Journal of the American Academy of Dermatology·L Carvajal-Huerta
Jul 24, 2003·Journal of the American College of Cardiology·Ronny AlcalaiTova Chajek-Shaul
Mar 4, 2008·Journal of Forensic and Legal Medicine·A J O KolarS K Suvarna
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Apr 20, 2010·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Veronique FressartPhilippe Charron
Oct 14, 2010·Journal of Dental Research·L ChalabreysseP Bouvagnet

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Citations

Nov 26, 2015·International Journal of Cardiology·Claudia StöllbergerJosef Finsterer
Sep 13, 2016·Iranian Journal of Pediatrics·Claudia Stollberger, Josef Finsterer
Jul 17, 2015·International Journal of Trichology·V Madhu SudhananShyam Sunder Chaudhary
Nov 17, 2017·Pediatric Dermatology·Sanjay SinghGomathy Sethuraman

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