دورية أكاديمية
Brain calcifications and PCDH12 variants
| العنوان: | Brain calcifications and PCDH12 variants |
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| المؤلفون: | Nicolas, Gaël, Sanchez-Contreras, Monica, Ramos, Eliana, Marisa, Lemos, Roberta, R, Ferreira, Joana, Moura, Denis, Sobrido, Maria, J, Richard, Anne-Claire, Lopez, Alma, Rosa, Legati, Andrea, Deleuze, Jean-François, Boland, Anne, Quenez, Olivier, Krystkowiak, Pierre, Favrole, Pascal, Geschwind, Daniel, H, Aran, Adi, Segel, Reeval, Levy-Lahad, Ephrat, Dickson, Dennis, W, Coppola, Giovanni, Rademakers, Rosa, de Oliveira, João, R M |
| المساهمون: | Centre national de référence pour les malades Alzheimer jeunes (CNRMAJ), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), David Geffen School of Medicine Los Angeles, University of California Los Angeles (UCLA), University of California (UC)-University of California (UC), Universidade Federal de Pernambuco Recife (UFPE), Interdisciplinary Institute for Neuroscience Bordeaux (IINS), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Federal University of Pernambuco Recife, Semel Institute for Neuroscience and Human Behavior Los Angeles, Ca, Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Service de Neurologie Aix-en-Provence, Centre Hospitalier du Pays d'Aix, Shaare Zedek Medical Center Jerusalem, Israel, The Hebrew University Hadassah Medical School, Mayo Clinic Jacksonville, University of California (UC), Conseil Régional de Haute Normandie —APERC 2014 no. 2014-19, Morris K. Udall Parkinson’s Disease Research Center of Excellence (NINDS P50NS072187), CPNq (480255/2013-0, 440770/2016-5, 470781/2014-9, and 307909/2012-3) |
| المصدر: | EISSN: 2376-7839 ; Neurology Genetics ; https://cea.hal.science/cea-04513458Test ; Neurology Genetics, 2024, 3 (4), ⟨10.1212/nxg.0000000000000166⟩ ; https://www.neurology.org/doi/10.1212/NXG.0000000000000166Test |
| بيانات النشر: | HAL CCSD American Academy of Neurology |
| سنة النشر: | 2024 |
| مصطلحات موضوعية: | [SDV]Life Sciences [q-bio], [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] |
| الوصف: | International audience ; Objective:To assess the potential connection between PCDH12 and brain calcifications in a patient carrying a homozygous nonsense variant in PCDH12 and in adult patients with brain calcifications.Methods:We performed a CT scan in 1 child with a homozygous PCDH12 nonsense variant. We screened DNA samples from 53 patients with primary familial brain calcification (PFBC) and 26 patients with brain calcification of unknown cause (BCUC).Results:We identified brain calcifications in subcortical and perithalamic regions in the patient with a homozygous PCDH12 nonsense variant. The calcification pattern was different from what has been observed in PFBC and more similar to what is described in in utero infections. In patients with PFBC or BCUC, we found no protein-truncating variant and 3 rare (minor allele frequency <0.001) PCDH12 predicted damaging missense heterozygous variants in 3 unrelated patients, albeit with no segregation data available.Conclusions:Brain calcifications should be added to the phenotypic spectrum associated with PCDH12 biallelic loss of function, in the context of severe cerebral developmental abnormalities. A putative role for PCDH12 variants remains to be determined in PFBC. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | cea-04513458; https://cea.hal.science/cea-04513458Test; https://cea.hal.science/cea-04513458/documentTest; https://cea.hal.science/cea-04513458/file/NXG.0000000000000166.pdfTest |
| DOI: | 10.1212/nxg.0000000000000166 |
| الإتاحة: | https://doi.org/10.1212/nxg.0000000000000166Test https://doi.org/10.1212/NXG.0000000000000166Test https://cea.hal.science/cea-04513458Test https://cea.hal.science/cea-04513458/documentTest https://cea.hal.science/cea-04513458/file/NXG.0000000000000166.pdfTest |
| حقوق: | info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.1CD5CF0E |
| قاعدة البيانات: | BASE |
| DOI: | 10.1212/nxg.0000000000000166 |
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