Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Lischka A, Eggermann K, Record CJ, Dohrn MF, Lassuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Soukalová J, et al. (2023)
Brain 146(12): 4880-4890.
Zeitschriftenaufsatz
| Veröffentlicht | Englisch
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Autor*in
Lischka, Annette;
Eggermann, Katja;
Record, Christopher J.;
Dohrn, Maike F.;
Lassuthová, Petra;
Kraft, Florian;
Begemann, Matthias;
Dey, Daniela;
Eggermann, Thomas;
Beijer, Danique;
Soukalová, Jana;
Laura, Matilde
Alle
Alle
Einrichtung
Abstract / Bemerkung
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.
Stichworte
neuropathies;
CIP;
HSAN;
HSN;
pain;
genetics
Erscheinungsjahr
2023
Zeitschriftentitel
Brain
Band
146
Ausgabe
12
Seite(n)
4880-4890
ISSN
0006-8950
eISSN
1460-2156
Page URI
https://pub.uni-bielefeld.de/record/2985934
Zitieren
Lischka A, Eggermann K, Record CJ, et al. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain. 2023;146(12):4880-4890.
Lischka, A., Eggermann, K., Record, C. J., Dohrn, M. F., Lassuthová, P., Kraft, F., Begemann, M., et al. (2023). Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain, 146(12), 4880-4890. https://doi.org/10.1093/brain/awad328
Lischka, Annette, Eggermann, Katja, Record, Christopher J., Dohrn, Maike F., Lassuthová, Petra, Kraft, Florian, Begemann, Matthias, et al. 2023. “Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies”. Brain 146 (12): 4880-4890.
Lischka, A., Eggermann, K., Record, C. J., Dohrn, M. F., Lassuthová, P., Kraft, F., Begemann, M., Dey, D., Eggermann, T., Beijer, D., et al. (2023). Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain 146, 4880-4890.
Lischka, A., et al., 2023. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain, 146(12), p 4880-4890.
A. Lischka, et al., “Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies”, Brain, vol. 146, 2023, pp. 4880-4890.
Lischka, A., Eggermann, K., Record, C.J., Dohrn, M.F., Lassuthová, P., Kraft, F., Begemann, M., Dey, D., Eggermann, T., Beijer, D., Soukalová, J., Laura, M., Rossor, A.M., Mazanec, R., Van Lent, J., Tomaselli, P.J., Ungelenk, M., Debus, K.Y., Feely, S.M.E., Gläser, D., Jagadeesh, S., Martin, M., Govindaraj, G.M., Singhi, P., Baineni, R., Biswal, N., Ibarra-Ramírez, M., Bonduelle, M., Gess, B., Romero Sánchez, J., Suthar, R., Udani, V., Nalini, A., Unnikrishnan, G., Marques Junior, W., Mercier, S., Procaccio, V., Bris, C., Suresh, B., Reddy, V., Skorupinska, M., Bonello-Palot, N., Mochel, F., Dahl, G., Sasidharan, K., Devassikutty, F.M., Nampoothiri, S., Rodovalho Doriqui, M.J., Müller-Felber, W., Vill, K., Haack, T.B., Dufke, A., Abele, M., Stucka, R., Siddiqi, S., Ullah, N., Spranger, S., Chiabrando, D., Bolgül, B.S., Parman, Y., Seeman, P., Lampert, A., Schulz, J.B., Wood, J.N., Cox, J.J., Auer-Grumbach, M., Timmerman, V., de Winter, J., Themistocleous, A.C., Shy, M., Bennett, D.L., Baets, J., Hübner, C.A., Leipold, E., Züchner, S., Elbracht, M., Cakar, A., Senderek, J., Hornemann, T., Woods, C.G., Reilly, M.M., Kurth, I.: Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain. 146, 4880-4890 (2023).
Lischka, Annette, Eggermann, Katja, Record, Christopher J., Dohrn, Maike F., Lassuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Soukalová, Jana, Laura, Matilde, Rossor, Alexander M., Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J., Ungelenk, Martin, Debus, Karlien Y., Feely, Shawna M. E., Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M., Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Romero Sánchez, Juan, Suthar, Renu, Udani, Vrajesh, Nalini, Atchayaram, Unnikrishnan, Gopikrishnan, Marques Junior, Wilson, Mercier, Sandra, Procaccio, Vincent, Bris, Celine, Suresh, Beena, Reddy, Vaishnavi, Skorupinska, Mariola, Bonello-Palot, Nathalie, Mochel, Fanny, Dahl, Georg, Sasidharan, Karthika, Devassikutty, Fiji M., Nampoothiri, Sheela, Rodovalho Doriqui, Maria J., Müller-Felber, Wolfgang, Vill, Katharina, Haack, Tobias B., Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S., Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Joerg B., Wood, John N., Cox, James J., Auer-Grumbach, Michaela, Timmerman, Vincent, de Winter, Jonathan, Themistocleous, Andreas C., Shy, Michael, Bennett, David L., Baets, Jonathan, Hübner, Christian A., Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Cakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C. Geoffrey, Reilly, Mary M., and Kurth, Ingo. “Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies”. Brain 146.12 (2023): 4880-4890.
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