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Autor
Abele, Michael 1 Auer-Grumbach, Michaela 1 Baets, Jonathan 1 Baineni, Revanth 1 Begemann, Matthias 1 Beijer, Danique 1 Bennett, David L 1 Biswal, Niranjan 1 Bolgül, Behiye S 1 Bonduelle, Maryse 1 Bonello-Palot, Nathalie 1 Bris, Céline 1 Chiabrando, Deborah 1 Cox, James J 1 Dahl, Georg 1 Debus, Karlien Y 1 Devassikutty, Fiji M 1 Dey, Daniela 1 Dohrn, Maike F 1 Dufke, Andreas 1
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Pracoviště
CHU Nantes Service de Génétique Médic... 1 Cambridge Institute for Medical Resea... 1 Center for Human Genetics Genetikum® ... 1 Center for Molecular Biomedicine Inst... 1 Centre for Medical Genetics Universit... 1 Davis and Davis Children's Hospital U... 1 Department of Anesthesiology and Inte... 1 Department of Biochemistry and Geneti... 1 Department of Child Neurology PD Hind... 1 Department of Clinical Chemistry Univ... 1 Department of Clinical Genetics and G... 1 Department of Genetics Hospital Infan... 1 Department of Medical Genetics Univer... 1 Department of Molecular Biotechnology... 1 Department of Neurology Faculty of Me... 1 Department of Neurology Medical Facul... 1 Department of Neurology National Inst... 1 Department of Neurology University Ho... 1 Department of Neurology University of... 1 Department of Neuromuscular Diseases ... 1
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Autor
Abele, Michael 1 Auer-Grumbach, Michaela 1 Baets, Jonathan 1 Baineni, Revanth 1 Begemann, Matthias 1 Beijer, Danique 1 Bennett, David L 1 Biswal, Niranjan 1 Bolgül, Behiye S 1 Bonduelle, Maryse 1 Bonello-Palot, Nathalie 1 Bris, Céline 1 Chiabrando, Deborah 1 Cox, James J 1 Dahl, Georg 1 Debus, Karlien Y 1 Devassikutty, Fiji M 1 Dey, Daniela 1 Dohrn, Maike F 1 Dufke, Andreas 1
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Pracoviště
CHU Nantes Service de Génétique Médic... 1 Cambridge Institute for Medical Resea... 1 Center for Human Genetics Genetikum® ... 1 Center for Molecular Biomedicine Inst... 1 Centre for Medical Genetics Universit... 1 Davis and Davis Children's Hospital U... 1 Department of Anesthesiology and Inte... 1 Department of Biochemistry and Geneti... 1 Department of Child Neurology PD Hind... 1 Department of Clinical Chemistry Univ... 1 Department of Clinical Genetics and G... 1 Department of Genetics Hospital Infan... 1 Department of Medical Genetics Univer... 1 Department of Molecular Biotechnology... 1 Department of Neurology Faculty of Me... 1 Department of Neurology Medical Facul... 1 Department of Neurology National Inst... 1 Department of Neurology University Ho... 1 Department of Neurology University of... 1 Department of Neuromuscular Diseases ... 1
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- Lischka, Annette
- Eggermann, Katja
- Record, Christopher J
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Dohrn, Maike F
Autor Dohrn, Maike F ORCID Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA
- Laššuthová, Petra
- Kraft, Florian
- Begemann, Matthias
- Dey, Daniela
- Eggermann, Thomas
- Beijer, Danique
Open Access Digital Library od 1996-01-01
PubMed
37769650
DOI
10.1093/brain/awad328
Knihovny.cz E-zdroje
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign. The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies.
- MeSH
- dědičné senzorické a autonomní neuropatie * genetika MeSH
- kongenitální analgezie * genetika MeSH
- lidé MeSH
- mutace genetika MeSH
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