Evidence for genetic heterogeneity in Carvajal syndrome
| Autor: | Nathalie Roux-Buisson, Rajae El Malti, Patrice Bouvagnet, Jean-Raymond Caignault, Nancy Nehme |
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| Přispěvatelé: | Laboratoire Cardiogénétique, Centre de Biologie et pathologie Est, ANTE-INSERM U836, équipe 4, Muscles et pathologies, Laboratoire de Biochimie et Biologie Moléculaire, CHU Grenoble-CHU Grenoble, Service de Cardiologie et Pathologie Vasculaire, Service de Santé des Armées-Hôpital d'instruction des Armées, Desgenettes, Roux-Buisson, Nathalie |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Male
[SDV]Life Sciences [q-bio] Cardiomyopathy Dilated cardiomyopathy Oligodontia 030204 cardiovascular system & hematology medicine.disease_cause 030207 dermatology & venereal diseases 0302 clinical medicine MESH: Desmoplakins MESH: Desmosomes Keratoderma Palmoplantar Genetics Mutation MESH: Middle Aged biology Left bundle branch block MESH: Genetic Heterogeneity Desmosomes Middle Aged 3. Good health Plakoglobin [SDV] Life Sciences [q-bio] Hypo/oligodontia Cardiomyopathies Human Cardiomyopathy Dilated Histology MESH: Keratoderma Palmoplantar Pathology and Forensic Medicine Genetic Heterogeneity 03 medical and health sciences stomatognathic system [SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular Biology medicine Humans [SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular Biology MESH: Humans Genetic heterogeneity Desmoplakin Cell Biology medicine.disease MESH: Male Carvajal syndrome MESH: Hair Diseases Desmoplakins MESH: Cardiomyopathies biology.protein gamma Catenin Hair Diseases MESH: gamma Catenin |
| Zdroj: | Cell and Tissue Research Cell and Tissue Research, Springer Verlag, 2012, 348 (2), pp.261-4. ⟨10.1007/s00441-012-1351-6⟩ |
| ISSN: | 0302-766X 1432-0878 |
| DOI: | 10.1007/s00441-012-1351-6⟩ |
| Popis: | International audience; 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 Carvajal syndrome with hypo/oligodontia is a heterogeneous condition in which genes other than DSP might be involved, although we cannot rule out a mutation in this gene consisting in a deletion of a single exon or a gene rearrangement. |
| Databáze: | OpenAIRE |
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