دورية أكاديمية
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
| العنوان: | Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients. |
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| المؤلفون: | Lehalle, D., Bruel, A. L., Vitobello, A., Denommé-Pichon, A. S., Duffourd, Y., Assoum, M., Amiel, J., Baujat, G., Bessieres, B., Bigoni, S., Burglen, L., Captier, G., Dard, R., Edery, P., Fortunato, F., Geneviève, D., Goldenberg, A., Guibaud, L., Héron, D., Holder-Espinasse, M., Lederer, D., Lopez Grondona, F., Grotto, S., Marlin, S., Nadeau, G., Picard, A., Rossi, M., Roume, J., Sanlaville, D., Saugier-Veber, P., Triau, S., Valenzuela Palafoll, M. I., Vanlerberghe, Clemence, Van Maldergem, L., Vezain, M., Vincent-Delorme, C., Zivi, E., Thevenon, J., Vabres, P., Thauvin-Robinet, C., Callier, P., Faivre, L. |
| المساهمون: | Université de Lille, CHU Lille, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand CHU Dijon, FHU TRANSLAD (CHU de Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Lipides - Nutrition - Cancer Dijon - U1231 LNC, CHU Necker - Enfants Malades AP-HP, Imagine - Institut des maladies génétiques IMAGINE - U1163, CHU Trousseau APHP, Université de Montpellier UM, CHI Poissy-Saint-Germain, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center CRNL, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement Inserm U781, Université de Rouen Normandie UNIROUEN, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Centre Hospitalier Régional Universitaire Lille CHRU Lille, Génétique des Anomalies du Développement GAD |
| بيانات النشر: | Wiley |
| سنة النشر: | 2023 |
| المجموعة: | LillOA (Lille Open Archive - Université de Lille) |
| مصطلحات موضوعية: | exome, genome sequencing, frontonasal dysplasia, oculoauriculofrontonasal syndrome, Pai syndrome |
| الوصف: | Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sakoda complex (SC). We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS. Based on strict clinical classification criteria, we could confirm only nine (33%) typical and two (7%) atypical PS individuals. The remaining ones were either OAFNS (11/27—41%) or presenting with an overlapping syndrome (5/27—19%). Because of the phenotypic overlap between these entities, OAFNS, ECCL, and SC can be either considered as differential diagnosis of PS or part of the same spectrum. Exome and/or genome sequencing from blood DNA in 12 patients and from affected tissue in one patient failed to identify any replication in candidate genes. Taken together, our data suggest that conventional approaches routinely utilized for the identification of molecular etiologies responsible for Mendelian disorders are inconclusive. Future studies on affected tissues and multiomics studies will thus be required in order to address either the contribution of mosaic or noncoding variation in these diseases. ; 188;7 |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/octet-stream |
| اللغة: | English |
| العلاقة: | American Journal of Medical Genetics Part A; Am J Med Genet; http://hdl.handle.net/20.500.12210/84154Test |
| الإتاحة: | https://doi.org/20.500.12210/84154Test https://hdl.handle.net/20.500.12210/84154Test |
| رقم الانضمام: | edsbas.732ED53D |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |