| A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. | |
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MedLine Citation:
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PMID: 20940358 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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L Chalabreysse; F Senni; P Bruyère; B Aime; C Ollagnier; A Bozio; P Bouvagnet |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-10-12 |
Journal Detail:
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Title: Journal of dental research Volume: 90 ISSN: 1544-0591 ISO Abbreviation: J. Dent. Res. Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2010-12-23 Completed Date: 2011-02-04 Revised Date: 2011-03-29 |
Medline Journal Info:
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Nlm Unique ID: 0354343 Medline TA: J Dent Res Country: United States |
Other Details:
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Languages: eng Pagination: 58-64 Citation Subset: D; IM |
Affiliation:
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Laboratoire Cardiogénétique, Hospices Civils de Lyon, Groupe Hospitalier Est, F-69677, Bron, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acid Sequence / genetics Anodontia / genetics* Arrhythmogenic Right Ventricular Dysplasia / genetics Bicuspid / abnormalities Cardiomyopathies / genetics Conserved Sequence / genetics Cytosine Desmoplakins / genetics* Follow-Up Studies Genes, Dominant / genetics Hair Diseases / genetics Humans Incisor / abnormalities Keratoderma, Palmoplantar / genetics Leucine / genetics Male Molar / abnormalities Molar, Third / abnormalities Mutation, Missense / genetics* Pedigree Serine / genetics Thymine gamma Catenin / genetics |
| Chemical | |
Reg. No./Substance:
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0/Desmoplakins; 0/gamma Catenin; 56-45-1/Serine; 61-90-5/Leucine; 65-71-4/Thymine; 71-30-7/Cytosine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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