Dental agenesis is either syndromic or non-syndromic. Here, we describe a familial case with Carvajal/Naxos syndrome associating woolly hair, palmoplantar keratoderma, and biventricular dilated cardiomyopathy. In addition to these signs, all three affected family members had hypo/oligodontia ranging from absence of the lower left second molar to 15 missing teeth, the typical pattern of oligodontia being absent 2nd premolars and absent 2nd and 3rd molars. Mutation screening in the desmoplakin gene (DSP) revealed a de novo missense mutation (c.1790 C>T, p.Ser597Leu) changing a serine residue conserved in all vertebrates. In addition, this variation was absent from 100 control DNA samples. There were no mutations in the plakoglobin gene. This familial case report and two other previous reports demonstrate that autosomal-dominant mutations in the DSP gene are associated with hypo/oligodontia in the setting of Carvajal/Naxos syndrome. This study suggests that dentists discovering oligo/hypodontia should screen for woolly hair and palmoplantar keratoderma because of the probable cardiac involvement with an inherent high risk of severe cardiomyopathy. In addition, this study reveals the role of desmosomes in the development of teeth and suggests that other genes encoding proteins of the desmosome could be involved in oligo/hypodontia.
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http://dx.doi.org/10.1177/0022034510383984 | DOI Listing |
J Pers Med
January 2022
Department of Cardiovascular and Thoracic Surgery, "Iuliu Hatieganu" University of Medicine and Pharmacy Cluj Napoca, 8, Victor Babes, St., 400012 Cluj-Napoca, Romania.
Arrhythmogenic right ventricular dysplasia (ARVD) is a rare genetic condition of the myocardium, with a significantly high risk of sudden death. Recent genetic research and improved understanding of the pathophysiology tend to change the ARVD definition towards a larger spectrum of myocardial involvement, which includes, in various proportions, both the right (RV) and left ventricle (LV), currently referred to as ACM (arrhythmogenic cardiomyopathy). Its pathological substrate is defined by the replacement of the ventricular myocardium with fibrous adipose tissue that further leads to inadequate electrical impulses and translates into varies degrees of malignant ventricular arrythmias and dyskinetic myocardium movements.
View Article and Find Full Text PDFJ Dent Res
January 2011
Laboratoire Cardiogénétique, Hospices Civils de Lyon, Groupe Hospitalier Est, F-69677, Bron, France.
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